Canonical Allele Identifier: CA368367558
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs1425544636
gnomAD v3: 7-99760832-C-T
gnomAD v4: 7-99760832-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760832C>T , CM000669.2:g.99760832C>T GRCh38
NC_000007.13:g.99358455C>T , CM000669.1:g.99358455C>T GRCh37
NC_000007.12:g.99196391C>T NCBI36
NG_008421.1:g.28354G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1496G>A ENSP00000337915.3:p.Cys499Tyr
ENST00000651162.1:n.838G>A
ENST00000651514.1:c.1403G>A MANE Select ENSP00000498939.1:p.Cys468Tyr
ENST00000651783.1:c.944G>A ENSP00000498924.1:p.Cys315Tyr
ENST00000652018.1:c.1256G>A ENSP00000498733.1:p.Cys419Tyr
ENST00000336411.6:c.1403G>A ENSP00000337915.2:p.Cys468Tyr
ENST00000354593.6:c.953G>A ENSP00000346607.2:p.Cys318Tyr
NM_001202855.2:c.1400G>A NP_001189784.1:p.Cys467Tyr
NM_017460.5:c.1403G>A NP_059488.2:p.Cys468Tyr
XM_011515841.1:c.1496G>A XP_011514143.1:p.Cys499Tyr
XM_011515842.1:c.1493G>A XP_011514144.1:p.Cys498Tyr
NM_017460.6:c.1403G>A MANE Select NP_059488.2:p.Cys468Tyr
NM_001202855.3:c.1400G>A NP_001189784.1:p.Cys467Tyr