Canonical Allele Identifier: CA456686596
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs1461300991
gnomAD v2: 7-99358517-A-G
gnomAD v3: 7-99760894-A-G
gnomAD v4: 7-99760894-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760894A>G , CM000669.2:g.99760894A>G GRCh38
NC_000007.13:g.99358517A>G , CM000669.1:g.99358517A>G GRCh37
NC_000007.12:g.99196453A>G NCBI36
NG_008421.1:g.28292T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1434T>C ENSP00000337915.3:p.Phe478=
ENST00000651162.1:n.776T>C
ENST00000651514.1:c.1341T>C MANE Select ENSP00000498939.1:p.Phe447=
ENST00000651783.1:c.882T>C ENSP00000498924.1:p.Phe294=
ENST00000652018.1:c.1194T>C ENSP00000498733.1:p.Phe398=
ENST00000336411.6:c.1341T>C ENSP00000337915.2:p.Phe447=
ENST00000354593.6:c.891T>C ENSP00000346607.2:p.Phe297=
NM_001202855.2:c.1338T>C NP_001189784.1:p.Phe446=
NM_017460.5:c.1341T>C NP_059488.2:p.Phe447=
XM_011515841.1:c.1434T>C XP_011514143.1:p.Phe478=
XM_011515842.1:c.1431T>C XP_011514144.1:p.Phe477=
NM_017460.6:c.1341T>C MANE Select NP_059488.2:p.Phe447=
NM_001202855.3:c.1338T>C NP_001189784.1:p.Phe446=