Canonical Allele Identifier: CA162122849

Gene: ABCB1

Linked Data

• dbSNP Id: rs920778285
• gnomAD v4: 7-87549962-G-A
• MyVariant Identifiers: chr7:g.87179278G>A (hg19) ; chr7:g.87549962G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87549962G>A , CM000669.2:g.87549962G>A	GRCh38
NC_000007.13:g.87179278G>A , CM000669.1:g.87179278G>A	GRCh37
NC_000007.12:g.87017214G>A	NCBI36
NG_011513.1:g.168287C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1443C>T	ENSP00000265724.3:p.Ala481=
ENST00000622132.5:c.1443C>T MANE Select	ENSP00000478255.1:p.Ala481=
ENST00000265724.7:c.1443C>T	ENSP00000265724.3:p.Ala481=
ENST00000482527.1:n.197C>T
ENST00000543898.5:c.1251C>T	ENSP00000444095.1:p.Ala417=
ENST00000622132.4:c.1443C>T	ENSP00000478255.1:p.Ala481=
NM_000927.4:c.1443C>T	NP_000918.2:p.Ala481=
NM_001348944.1:c.1443C>T	NP_001335873.1:p.Ala481=
NM_001348945.1:c.1653C>T	NP_001335874.1:p.Ala551=
NM_001348946.1:c.1443C>T	NP_001335875.1:p.Ala481=
NM_001348946.2:c.1443C>T MANE Select	NP_001335875.1:p.Ala481=
NM_000927.5:c.1443C>T	NP_000918.2:p.Ala481=
NM_001348944.2:c.1443C>T	NP_001335873.1:p.Ala481=
NM_001348945.2:c.1653C>T	NP_001335874.1:p.Ala551=