Canonical Allele Identifier: CA4369479
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs370772300
gnomAD v2: 7-99358443-T-C
gnomAD v3: 7-99760820-T-C
gnomAD v4: 7-99760820-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760820T>C , CM000669.2:g.99760820T>C GRCh38
NC_000007.13:g.99358443T>C , CM000669.1:g.99358443T>C GRCh37
NC_000007.12:g.99196379T>C NCBI36
NG_008421.1:g.28366A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1508A>G ENSP00000337915.3:p.Gln503Arg
ENST00000651162.1:n.850A>G
ENST00000651514.1:c.1415A>G MANE Select ENSP00000498939.1:p.Gln472Arg
ENST00000651783.1:c.956A>G ENSP00000498924.1:p.Gln319Arg
ENST00000652018.1:c.1268A>G ENSP00000498733.1:p.Gln423Arg
ENST00000336411.6:c.1415A>G ENSP00000337915.2:p.Gln472Arg
ENST00000354593.6:c.965A>G ENSP00000346607.2:p.Gln322Arg
NM_001202855.2:c.1412A>G NP_001189784.1:p.Gln471Arg
NM_017460.5:c.1415A>G NP_059488.2:p.Gln472Arg
XM_011515841.1:c.1508A>G XP_011514143.1:p.Gln503Arg
XM_011515842.1:c.1505A>G XP_011514144.1:p.Gln502Arg
NM_017460.6:c.1415A>G MANE Select NP_059488.2:p.Gln472Arg
NM_001202855.3:c.1412A>G NP_001189784.1:p.Gln471Arg