Canonical Allele Identifier: CA4369501
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs755248651
gnomAD v2: 7-99358552-C-T
gnomAD v3: 7-99760929-C-T
gnomAD v4: 7-99760929-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760929C>T , CM000669.2:g.99760929C>T GRCh38
NC_000007.13:g.99358552C>T , CM000669.1:g.99358552C>T GRCh37
NC_000007.12:g.99196488C>T NCBI36
NG_008421.1:g.28257G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1399G>A ENSP00000337915.3:p.Gly467Arg
ENST00000651162.1:n.741G>A
ENST00000651514.1:c.1306G>A MANE Select ENSP00000498939.1:p.Gly436Arg
ENST00000651783.1:c.847G>A ENSP00000498924.1:p.Gly283Arg
ENST00000652018.1:c.1159G>A ENSP00000498733.1:p.Gly387Arg
ENST00000336411.6:c.1306G>A ENSP00000337915.2:p.Gly436Arg
ENST00000354593.6:c.856G>A ENSP00000346607.2:p.Gly286Arg
NM_001202855.2:c.1303G>A NP_001189784.1:p.Gly435Arg
NM_017460.5:c.1306G>A NP_059488.2:p.Gly436Arg
XM_011515841.1:c.1399G>A XP_011514143.1:p.Gly467Arg
XM_011515842.1:c.1396G>A XP_011514144.1:p.Gly466Arg
NM_017460.6:c.1306G>A MANE Select NP_059488.2:p.Gly436Arg
NM_001202855.3:c.1303G>A NP_001189784.1:p.Gly435Arg