Canonical Allele Identifier: CA368367505
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs1265177231
gnomAD v2: 7-99358442-C-G
gnomAD v3: 7-99760819-C-G
gnomAD v4: 7-99760819-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760819C>G , CM000669.2:g.99760819C>G GRCh38
NC_000007.13:g.99358442C>G , CM000669.1:g.99358442C>G GRCh37
NC_000007.12:g.99196378C>G NCBI36
NG_008421.1:g.28367G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1509G>C ENSP00000337915.3:p.Gln503His
ENST00000651162.1:n.851G>C
ENST00000651514.1:c.1416G>C MANE Select ENSP00000498939.1:p.Gln472His
ENST00000651783.1:c.957G>C ENSP00000498924.1:p.Gln319His
ENST00000652018.1:c.1269G>C ENSP00000498733.1:p.Gln423His
ENST00000336411.6:c.1416G>C ENSP00000337915.2:p.Gln472His
ENST00000354593.6:c.966G>C ENSP00000346607.2:p.Gln322His
NM_001202855.2:c.1413G>C NP_001189784.1:p.Gln471His
NM_017460.5:c.1416G>C NP_059488.2:p.Gln472His
XM_011515841.1:c.1509G>C XP_011514143.1:p.Gln503His
XM_011515842.1:c.1506G>C XP_011514144.1:p.Gln502His
NM_017460.6:c.1416G>C MANE Select NP_059488.2:p.Gln472His
NM_001202855.3:c.1413G>C NP_001189784.1:p.Gln471His