Canonical Allele Identifier: CA368368710
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs770509855
gnomAD v2: 7-99358576-C-T
gnomAD v4: 7-99760953-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760953C>T , CM000669.2:g.99760953C>T GRCh38
NC_000007.13:g.99358576C>T , CM000669.1:g.99358576C>T GRCh37
NC_000007.12:g.99196512C>T NCBI36
NG_008421.1:g.28233G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1375G>A ENSP00000337915.3:p.Asp459Asn
ENST00000651162.1:n.717G>A
ENST00000651514.1:c.1282G>A MANE Select ENSP00000498939.1:p.Asp428Asn
ENST00000651783.1:c.823G>A ENSP00000498924.1:p.Asp275Asn
ENST00000652018.1:c.1135G>A ENSP00000498733.1:p.Asp379Asn
ENST00000336411.6:c.1282G>A ENSP00000337915.2:p.Asp428Asn
ENST00000354593.6:c.832G>A ENSP00000346607.2:p.Asp278Asn
NM_001202855.2:c.1279G>A NP_001189784.1:p.Asp427Asn
NM_017460.5:c.1282G>A NP_059488.2:p.Asp428Asn
XM_011515841.1:c.1375G>A XP_011514143.1:p.Asp459Asn
XM_011515842.1:c.1372G>A XP_011514144.1:p.Asp458Asn
NM_017460.6:c.1282G>A MANE Select NP_059488.2:p.Asp428Asn
NM_001202855.3:c.1279G>A NP_001189784.1:p.Asp427Asn