Canonical Allele Identifier: CA576402053
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs1456376993
gnomAD v2: 7-99367252-G-A
gnomAD v3: 7-99769629-G-A
gnomAD v4: 7-99769629-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99769629G>A , CM000669.2:g.99769629G>A GRCh38
NC_000007.13:g.99367252G>A , CM000669.1:g.99367252G>A GRCh37
NC_000007.12:g.99205188G>A NCBI36
NG_008421.1:g.19557C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.521+139C>T ENSP00000337915.3:n.521+139C>T
ENST00000651514.1:c.521+139C>T MANE Select ENSP00000498939.1:n.521+139C>T
ENST00000651783.1:c.58-1122C>T ENSP00000498924.1:n.58-1122C>T
ENST00000652018.1:c.374+139C>T ENSP00000498733.1:n.374+139C>T
ENST00000336411.6:c.521+139C>T ENSP00000337915.2:n.521+139C>T
ENST00000354593.6:c.72-1127C>T ENSP00000346607.2:n.72-1127C>T
ENST00000480043.1:n.557C>T
NM_001202855.2:c.521+139C>T NP_001189784.1:n.521+139C>T
NM_017460.5:c.521+139C>T NP_059488.2:n.521+139C>T
XM_011515841.1:c.521+139C>T XP_011514143.1:n.521+139C>T
XM_011515842.1:c.521+139C>T XP_011514144.1:n.521+139C>T
NM_017460.6:c.521+139C>T MANE Select NP_059488.2:n.521+139C>T
NM_001202855.3:c.521+139C>T NP_001189784.1:n.521+139C>T