Canonical Allele Identifier: CA163151091
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs181210913
gnomAD v3: 7-99760827-C-T
gnomAD v4: 7-99760827-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760827C>T , CM000669.2:g.99760827C>T GRCh38
NC_000007.13:g.99358450C>T , CM000669.1:g.99358450C>T GRCh37
NC_000007.12:g.99196386C>T NCBI36
NG_008421.1:g.28359G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1501G>A ENSP00000337915.3:p.Glu501Lys
ENST00000651162.1:n.843G>A
ENST00000651514.1:c.1408G>A MANE Select ENSP00000498939.1:p.Glu470Lys
ENST00000651783.1:c.949G>A ENSP00000498924.1:p.Glu317Lys
ENST00000652018.1:c.1261G>A ENSP00000498733.1:p.Glu421Lys
ENST00000336411.6:c.1408G>A ENSP00000337915.2:p.Glu470Lys
ENST00000354593.6:c.958G>A ENSP00000346607.2:p.Glu320Lys
NM_001202855.2:c.1405G>A NP_001189784.1:p.Glu469Lys
NM_017460.5:c.1408G>A NP_059488.2:p.Glu470Lys
XM_011515841.1:c.1501G>A XP_011514143.1:p.Glu501Lys
XM_011515842.1:c.1498G>A XP_011514144.1:p.Glu500Lys
NM_017460.6:c.1408G>A MANE Select NP_059488.2:p.Glu470Lys
NM_001202855.3:c.1405G>A NP_001189784.1:p.Glu469Lys