Canonical Allele Identifier: CA4369480
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs780449767
gnomAD v2: 7-99358444-G-A
gnomAD v4: 7-99760821-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760821G>A , CM000669.2:g.99760821G>A GRCh38
NC_000007.13:g.99358444G>A , CM000669.1:g.99358444G>A GRCh37
NC_000007.12:g.99196380G>A NCBI36
NG_008421.1:g.28365C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1507C>T ENSP00000337915.3:p.Gln503Ter
ENST00000651162.1:n.849C>T
ENST00000651514.1:c.1414C>T MANE Select ENSP00000498939.1:p.Gln472Ter
ENST00000651783.1:c.955C>T ENSP00000498924.1:p.Gln319Ter
ENST00000652018.1:c.1267C>T ENSP00000498733.1:p.Gln423Ter
ENST00000336411.6:c.1414C>T ENSP00000337915.2:p.Gln472Ter
ENST00000354593.6:c.964C>T ENSP00000346607.2:p.Gln322Ter
NM_001202855.2:c.1411C>T NP_001189784.1:p.Gln471Ter
NM_017460.5:c.1414C>T NP_059488.2:p.Gln472Ter
XM_011515841.1:c.1507C>T XP_011514143.1:p.Gln503Ter
XM_011515842.1:c.1504C>T XP_011514144.1:p.Gln502Ter
NM_017460.6:c.1414C>T MANE Select NP_059488.2:p.Gln472Ter
NM_001202855.3:c.1411C>T NP_001189784.1:p.Gln471Ter