Canonical Allele Identifier: CA368367687
Gene: CYP3A4 HGNC NCBI

Linked Data

gnomAD v4: 7-99760862-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760862C>T , CM000669.2:g.99760862C>T GRCh38
NC_000007.13:g.99358485C>T , CM000669.1:g.99358485C>T GRCh37
NC_000007.12:g.99196421C>T NCBI36
NG_008421.1:g.28324G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1466G>A ENSP00000337915.3:p.Arg489Lys
ENST00000651162.1:n.808G>A
ENST00000651514.1:c.1373G>A MANE Select ENSP00000498939.1:p.Arg458Lys
ENST00000651783.1:c.914G>A ENSP00000498924.1:p.Arg305Lys
ENST00000652018.1:c.1226G>A ENSP00000498733.1:p.Arg409Lys
ENST00000336411.6:c.1373G>A ENSP00000337915.2:p.Arg458Lys
ENST00000354593.6:c.923G>A ENSP00000346607.2:p.Arg308Lys
NM_001202855.2:c.1370G>A NP_001189784.1:p.Arg457Lys
NM_017460.5:c.1373G>A NP_059488.2:p.Arg458Lys
XM_011515841.1:c.1466G>A XP_011514143.1:p.Arg489Lys
XM_011515842.1:c.1463G>A XP_011514144.1:p.Arg488Lys
NM_017460.6:c.1373G>A MANE Select NP_059488.2:p.Arg458Lys
NM_001202855.3:c.1370G>A NP_001189784.1:p.Arg457Lys