Canonical Allele Identifier: CA368371178
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs1335822753
gnomAD v2: 7-99366084-G-A
gnomAD v4: 7-99768461-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99768461G>A , CM000669.2:g.99768461G>A GRCh38
NC_000007.13:g.99366084G>A , CM000669.1:g.99366084G>A GRCh37
NC_000007.12:g.99204020G>A NCBI36
NG_008421.1:g.20725C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.563C>T ENSP00000337915.3:p.Ser188Leu
ENST00000651514.1:c.563C>T MANE Select ENSP00000498939.1:p.Ser188Leu
ENST00000651783.1:c.104C>T ENSP00000498924.1:p.Ser35Leu
ENST00000652018.1:c.416C>T ENSP00000498733.1:p.Ser139Leu
ENST00000336411.6:c.563C>T ENSP00000337915.2:p.Ser188Leu
ENST00000354593.6:c.113C>T ENSP00000346607.2:p.Ser38Leu
NM_001202855.2:c.563C>T NP_001189784.1:p.Ser188Leu
NM_017460.5:c.563C>T NP_059488.2:p.Ser188Leu
XM_011515841.1:c.563C>T XP_011514143.1:p.Ser188Leu
XM_011515842.1:c.563C>T XP_011514144.1:p.Ser188Leu
NM_017460.6:c.563C>T MANE Select NP_059488.2:p.Ser188Leu
NM_001202855.3:c.563C>T NP_001189784.1:p.Ser188Leu