Canonical Allele Identifier: CA4369691
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs71581992
gnomAD v2: 7-99366020-C-T
gnomAD v4: 7-99768397-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99768397C>T , CM000669.2:g.99768397C>T GRCh38
NC_000007.13:g.99366020C>T , CM000669.1:g.99366020C>T GRCh37
NC_000007.12:g.99203956C>T NCBI36
NG_008421.1:g.20789G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.627G>A ENSP00000337915.3:p.Lys209=
ENST00000651514.1:c.627G>A MANE Select ENSP00000498939.1:p.Lys209=
ENST00000651783.1:c.168G>A ENSP00000498924.1:p.Lys56=
ENST00000652018.1:c.480G>A ENSP00000498733.1:p.Lys160=
ENST00000336411.6:c.627G>A ENSP00000337915.2:p.Lys209=
ENST00000354593.6:c.177G>A ENSP00000346607.2:p.Lys59=
NM_001202855.2:c.627G>A NP_001189784.1:p.Lys209=
NM_017460.5:c.627G>A NP_059488.2:p.Lys209=
XM_011515841.1:c.627G>A XP_011514143.1:p.Lys209=
XM_011515842.1:c.627G>A XP_011514144.1:p.Lys209=
NM_017460.6:c.627G>A MANE Select NP_059488.2:p.Lys209=
NM_001202855.3:c.627G>A NP_001189784.1:p.Lys209=