Canonical Allele Identifier: CA163153385
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs893949763
gnomAD v2: 7-99366042-G-A
gnomAD v3: 7-99768419-G-A
gnomAD v4: 7-99768419-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99768419G>A , CM000669.2:g.99768419G>A GRCh38
NC_000007.13:g.99366042G>A , CM000669.1:g.99366042G>A GRCh37
NC_000007.12:g.99203978G>A NCBI36
NG_008421.1:g.20767C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000336411.7:c.605C>T ENSP00000337915.3:p.Pro202Leu
ENST00000651514.1:c.605C>T MANE Select ENSP00000498939.1:p.Pro202Leu
ENST00000651783.1:c.146C>T ENSP00000498924.1:p.Pro49Leu
ENST00000652018.1:c.458C>T ENSP00000498733.1:p.Pro153Leu
ENST00000336411.6:c.605C>T ENSP00000337915.2:p.Pro202Leu
ENST00000354593.6:c.155C>T ENSP00000346607.2:p.Pro52Leu
NM_001202855.2:c.605C>T NP_001189784.1:p.Pro202Leu
NM_017460.5:c.605C>T NP_059488.2:p.Pro202Leu
XM_011515841.1:c.605C>T XP_011514143.1:p.Pro202Leu
XM_011515842.1:c.605C>T XP_011514144.1:p.Pro202Leu
NM_017460.6:c.605C>T MANE Select NP_059488.2:p.Pro202Leu
NM_001202855.3:c.605C>T NP_001189784.1:p.Pro202Leu