Canonical Allele Identifier: CA368370228
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs755204879
gnomAD v2: 7-99364788-C-G
gnomAD v4: 7-99767165-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99767165C>G , CM000669.2:g.99767165C>G GRCh38
NC_000007.13:g.99364788C>G , CM000669.1:g.99364788C>G GRCh37
NC_000007.12:g.99202724C>G NCBI36
NG_008421.1:g.22021G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.764G>C ENSP00000337915.3:p.Arg255Thr
ENST00000651162.1:n.199G>C
ENST00000651514.1:c.764G>C MANE Select ENSP00000498939.1:p.Arg255Thr
ENST00000651783.1:c.305G>C ENSP00000498924.1:p.Arg102Thr
ENST00000652018.1:c.617G>C ENSP00000498733.1:p.Arg206Thr
ENST00000336411.6:c.764G>C ENSP00000337915.2:p.Arg255Thr
ENST00000354593.6:c.314G>C ENSP00000346607.2:p.Arg105Thr
NM_001202855.2:c.761G>C NP_001189784.1:p.Arg254Thr
NM_017460.5:c.764G>C NP_059488.2:p.Arg255Thr
XM_011515841.1:c.764G>C XP_011514143.1:p.Arg255Thr
XM_011515842.1:c.761G>C XP_011514144.1:p.Arg254Thr
NM_017460.6:c.764G>C MANE Select NP_059488.2:p.Arg255Thr
NM_001202855.3:c.761G>C NP_001189784.1:p.Arg254Thr