Canonical Allele Identifier: CA163153793
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs1043942350
gnomAD v2: 7-99367472-G-A
gnomAD v4: 7-99769849-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99769849G>A , CM000669.2:g.99769849G>A GRCh38
NC_000007.13:g.99367472G>A , CM000669.1:g.99367472G>A GRCh37
NC_000007.12:g.99205408G>A NCBI36
NG_008421.1:g.19337C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.440C>T ENSP00000337915.3:p.Pro147Leu
ENST00000651514.1:c.440C>T MANE Select ENSP00000498939.1:p.Pro147Leu
ENST00000651783.1:c.58-1342C>T ENSP00000498924.1:n.58-1342C>T
ENST00000652018.1:c.293C>T ENSP00000498733.1:p.Pro98Leu
ENST00000336411.6:c.440C>T ENSP00000337915.2:p.Pro147Leu
ENST00000354593.6:c.72-1347C>T ENSP00000346607.2:n.72-1347C>T
ENST00000480043.1:n.337C>T
NM_001202855.2:c.440C>T NP_001189784.1:p.Pro147Leu
NM_017460.5:c.440C>T NP_059488.2:p.Pro147Leu
XM_011515841.1:c.440C>T XP_011514143.1:p.Pro147Leu
XM_011515842.1:c.440C>T XP_011514144.1:p.Pro147Leu
NM_017460.6:c.440C>T MANE Select NP_059488.2:p.Pro147Leu
NM_001202855.3:c.440C>T NP_001189784.1:p.Pro147Leu