Canonical Allele Identifier: CA163151201
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs923051037
gnomAD v3: 7-99760981-T-C
gnomAD v4: 7-99760981-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760981T>C , CM000669.2:g.99760981T>C GRCh38
NC_000007.13:g.99358604T>C , CM000669.1:g.99358604T>C GRCh37
NC_000007.12:g.99196540T>C NCBI36
NG_008421.1:g.28205A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1347A>G ENSP00000337915.3:p.Ile449Met
ENST00000651162.1:n.689A>G
ENST00000651514.1:c.1254A>G MANE Select ENSP00000498939.1:p.Arg418=
ENST00000651783.1:c.795A>G ENSP00000498924.1:p.Arg265=
ENST00000652018.1:c.1107A>G ENSP00000498733.1:p.Arg369=
ENST00000336411.6:c.1254A>G ENSP00000337915.2:p.Arg418=
ENST00000354593.6:c.804A>G ENSP00000346607.2:p.Arg268=
NM_001202855.2:c.1251A>G NP_001189784.1:p.Arg417=
NM_017460.5:c.1254A>G NP_059488.2:p.Arg418=
XM_011515841.1:c.1347A>G XP_011514143.1:p.Ile449Met
XM_011515842.1:c.1344A>G XP_011514144.1:p.Ile448Met
NM_017460.6:c.1254A>G MANE Select NP_059488.2:p.Arg418=
NM_001202855.3:c.1251A>G NP_001189784.1:p.Arg417=