Canonical Allele Identifier: CA368368703
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs1274902257
gnomAD v2: 7-99358573-G-A
gnomAD v4: 7-99760950-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760950G>A , CM000669.2:g.99760950G>A GRCh38
NC_000007.13:g.99358573G>A , CM000669.1:g.99358573G>A GRCh37
NC_000007.12:g.99196509G>A NCBI36
NG_008421.1:g.28236C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1378C>T ENSP00000337915.3:p.Pro460Ser
ENST00000651162.1:n.720C>T
ENST00000651514.1:c.1285C>T MANE Select ENSP00000498939.1:p.Pro429Ser
ENST00000651783.1:c.826C>T ENSP00000498924.1:p.Pro276Ser
ENST00000652018.1:c.1138C>T ENSP00000498733.1:p.Pro380Ser
ENST00000336411.6:c.1285C>T ENSP00000337915.2:p.Pro429Ser
ENST00000354593.6:c.835C>T ENSP00000346607.2:p.Pro279Ser
NM_001202855.2:c.1282C>T NP_001189784.1:p.Pro428Ser
NM_017460.5:c.1285C>T NP_059488.2:p.Pro429Ser
XM_011515841.1:c.1378C>T XP_011514143.1:p.Pro460Ser
XM_011515842.1:c.1375C>T XP_011514144.1:p.Pro459Ser
NM_017460.6:c.1285C>T MANE Select NP_059488.2:p.Pro429Ser
NM_001202855.3:c.1282C>T NP_001189784.1:p.Pro428Ser