Canonical Allele Identifier: CA368062333
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87549993-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87549993C>A , CM000669.2:g.87549993C>A GRCh38
NC_000007.13:g.87179309C>A , CM000669.1:g.87179309C>A GRCh37
NC_000007.12:g.87017245C>A NCBI36
NG_011513.1:g.168256G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1412G>T ENSP00000265724.3:p.Gly471Val
ENST00000622132.5:c.1412G>T MANE Select ENSP00000478255.1:p.Gly471Val
ENST00000265724.7:c.1412G>T ENSP00000265724.3:p.Gly471Val
ENST00000482527.1:n.166G>T
ENST00000543898.5:c.1220G>T ENSP00000444095.1:p.Gly407Val
ENST00000622132.4:c.1412G>T ENSP00000478255.1:p.Gly471Val
NM_000927.4:c.1412G>T NP_000918.2:p.Gly471Val
NM_001348944.1:c.1412G>T NP_001335873.1:p.Gly471Val
NM_001348945.1:c.1622G>T NP_001335874.1:p.Gly541Val
NM_001348946.1:c.1412G>T NP_001335875.1:p.Gly471Val
NM_001348946.2:c.1412G>T MANE Select NP_001335875.1:p.Gly471Val
NM_000927.5:c.1412G>T NP_000918.2:p.Gly471Val
NM_001348944.2:c.1412G>T NP_001335873.1:p.Gly471Val
NM_001348945.2:c.1622G>T NP_001335874.1:p.Gly541Val