Canonical Allele Identifier: CA368370275
Gene: CYP3A4 HGNC NCBI

Linked Data

gnomAD v4: 7-99767187-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99767187A>C , CM000669.2:g.99767187A>C GRCh38
NC_000007.13:g.99364810A>C , CM000669.1:g.99364810A>C GRCh37
NC_000007.12:g.99202746A>C NCBI36
NG_008421.1:g.21999T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.742T>G ENSP00000337915.3:p.Phe248Val
ENST00000651162.1:n.177T>G
ENST00000651514.1:c.742T>G MANE Select ENSP00000498939.1:p.Phe248Val
ENST00000651783.1:c.283T>G ENSP00000498924.1:p.Phe95Val
ENST00000652018.1:c.595T>G ENSP00000498733.1:p.Phe199Val
ENST00000336411.6:c.742T>G ENSP00000337915.2:p.Phe248Val
ENST00000354593.6:c.292T>G ENSP00000346607.2:p.Phe98Val
NM_001202855.2:c.739T>G NP_001189784.1:p.Phe247Val
NM_017460.5:c.742T>G NP_059488.2:p.Phe248Val
XM_011515841.1:c.742T>G XP_011514143.1:p.Phe248Val
XM_011515842.1:c.739T>G XP_011514144.1:p.Phe247Val
NM_017460.6:c.742T>G MANE Select NP_059488.2:p.Phe248Val
NM_001202855.3:c.739T>G NP_001189784.1:p.Phe247Val