Canonical Allele Identifier: CA4369645
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs199908125
gnomAD v2: 7-99364768-C-T
gnomAD v3: 7-99767145-C-T
gnomAD v4: 7-99767145-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99767145C>T , CM000669.2:g.99767145C>T GRCh38
NC_000007.13:g.99364768C>T , CM000669.1:g.99364768C>T GRCh37
NC_000007.12:g.99202704C>T NCBI36
NG_008421.1:g.22041G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.784G>A ENSP00000337915.3:p.Glu262Lys
ENST00000651162.1:n.219G>A
ENST00000651514.1:c.784G>A MANE Select ENSP00000498939.1:p.Glu262Lys
ENST00000651783.1:c.325G>A ENSP00000498924.1:p.Glu109Lys
ENST00000652018.1:c.637G>A ENSP00000498733.1:p.Glu213Lys
ENST00000336411.6:c.784G>A ENSP00000337915.2:p.Glu262Lys
ENST00000354593.6:c.334G>A ENSP00000346607.2:p.Glu112Lys
NM_001202855.2:c.781G>A NP_001189784.1:p.Glu261Lys
NM_017460.5:c.784G>A NP_059488.2:p.Glu262Lys
XM_011515841.1:c.784G>A XP_011514143.1:p.Glu262Lys
XM_011515842.1:c.781G>A XP_011514144.1:p.Glu261Lys
NM_017460.6:c.784G>A MANE Select NP_059488.2:p.Glu262Lys
NM_001202855.3:c.781G>A NP_001189784.1:p.Glu261Lys