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Important Variant Information for CYP3A4

Submitted by: Alan Shuldiner (PAPI), Michelle Whirl Carillo, Joan M. Hebert (PharmGKB)
Reviewed by: Under Review
Submitted date: July, 2007

There are Nine Important Variants for CYP3A4.

  1. CYP3A4: -392A>G(rs2740574)
  2. CYP3A4: M445T (rs4986910)
  3. CYP3A4: D174H (rs4986908)
  4. CYP3A4: P416L (rs4986909)
  5. CYP3A4: L15P (rs12721634)
  6. CYP3A4: R162Q(rs4986907)
  7. CYP3A4: T185S (rs12721627)
  8. CYP3A4: F189S (rs4987161)
  9. CYP3A4: P467S(rs4986913)


1. CYP3A4:-392A>G

Gene HGNC Name: CYP3A4
Genomic Variant & GenBank ID: 61,645A>G on AF280107
mRNA Variant & GenBank ID: NA
Protein Variant & GenBank ID: NA
dbSNP rs#: rs2740574
GoldenPath Position: chr7:99220032 (hg18)
Key Haplotypes: CYP3A4*1B ,CYP3A4*15B


2. CYP3A4:M445T(rs4986910)

Gene HGNC Name: CYP3A4
Genomic Variant & GenBank ID: 24,592,800 A>G on NT_007933
mRNA Variant & GenBank ID: 1438 T>C on NM_017460
Protein Variant & GenBank ID: 445 Met>Thr on NP_059488
dbSNP rs#: rs4986910
GoldenPath Position: chr7:99196460 (hg18)
Key Haplotypes: CYP3A4*3


3. CYP3A4: D174H(rs4986908)

Gene HGNC Name: CYP3A4
Genomic Variant & GenBank ID: 76,340 G>C on AF280107
mRNA Variant & GenBank ID: 624 G>C on NM_017460
Protein Variant & GenBank ID: 174 Asp>His on NP_059488
dbSNP rs#: rs4986908
GoldenPath Position: chr7:99205328  (hg18)
Key Haplotypes: CYP3A4*10


4. CYP3A4: P416L(rs4986909)

Gene HGNC Name: CYP3A4
Genomic Variant & GenBank ID: 84,062 C>T on AF280107
mRNA Variant & GenBank ID: 1351 C>T on NM_017460
Protein Variant & GenBank ID: 416 Pro>Leu on NP_059488
dbSNP rs#: rs4986909
GoldenPath Position: chr7:99197606 (hg18)
Key Haplotypes: CYP3A4*13


5. CYP3A4:L15P (rs12721634)

Gene HGNC Name: CYP3A4
Genomic Variant & GenBank ID: 62,080 T>C on AF280107
mRNA Variant & GenBank ID: 148 T>C on NM_017460
Protein Variant & GenBank ID: 15 Leu>Pro on NP_059488
dbSNP rs#: rs12721634
GoldenPath Position: chr7:99219597  (hg18)
Key Haplotypes: CYP3A4*14


6. CYP3A4:R162Q (rs4986907)

Gene HGNC Name: CYP3A4
Genomic Variant & GenBank ID: 76,305 G>A on AF280107
mRNA Variant & GenBank ID: 589 G>A on NM_017460
Protein Variant & GenBank ID: 162 Arg>Gln on NP_059488
dbSNP rs#: rs4986907
GoldenPath Position: chr7:99205363  (hg18)
Key Haplotypes: CYP3A4*15A, CYP3A4*15B


7. CYP3A4: T185S(rs12721627)

Gene HGNC Name: CYP3A4
Genomic Variant & GenBank ID: 77,639 C>G on AF280107
mRNA Variant & GenBank ID: 658 C>G on NM_017460
Protein Variant & GenBank ID: 185 Thr>Ser on NP_059488
dbSNP rs#: rs12721627
GoldenPath Position: chr7:99204029 (hg18)
Key Haplotypes: CYP3A4*16A , CYP3A4*16B


8. CYP3A4:F189S(rs4987161)

Gene HGNC Name: CYP3A4
Genomic Variant & GenBank ID: 77,651 T>C on AF280107
mRNA Variant & GenBank ID: 670 T>C on NM_017460
Protein Variant & GenBank ID: 189 Phe>Ser on NP_059488
dbSNP rs#: rs4987161
GoldenPath Position: chr7:99204017 (hg18)
Key Haplotypes: CYP3A4*17


9. CYP3A4: P467S(rs4986913)

Gene HGNC Name: CYP3A4
Genomic Variant & GenBank ID: 85,273 C>T on AF280107
mRNA Variant & GenBank ID: 1503 C>T on NM_017460
Protein Variant & GenBank ID: 467 Pro>Ser on NP_059488
dbSNP rs#: rs4986913
GoldenPath Position: chr7:99196395 (hg18)
Key Haplotypes: CYP3A4*19
The PGRN is financially supported by grants from NIGMS, NHLBI, NHGRI, NIEHS, NCI, and NLM within the NIH, HHS. PharmGKB is managed at Stanford University. This work is supported by the NIH/NIGMS Pharmacogenetics Research Network and Database (U01GM61374). ©2001-2008 PharmGKB.