Canonical Allele Identifier: CA915945180

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 829314
• ClinVar RCV Id: RCV001029235
• dbSNP Id: rs1584915251
• gnomAD v4: 7-87600921-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87600921C>T , CM000669.2:g.87600921C>T	GRCh38
NC_000007.13:g.87230237C>T , CM000669.1:g.87230237C>T	GRCh37
NC_000007.12:g.87068173C>T	NCBI36
NG_011513.1:g.117328G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.-173G>A	ENSP00000265724.3:n.-173G>A
ENST00000265724.7:c.-173G>A	ENSP00000265724.3:n.-173G>A
ENST00000416177.1:c.-78+52G>A	ENSP00000399419.1:n.-78+52G>A
ENST00000476862.1:n.474G>A
ENST00000543898.5:c.-173G>A	ENSP00000444095.1:n.-173G>A
ENST00000622132.4:c.-173G>A	ENSP00000478255.1:n.-173G>A
NM_000927.4:c.-173G>A	NP_000918.2:n.-173G>A
NM_001348944.1:c.-78+52G>A	NP_001335873.1:n.-78+52G>A
NM_001348945.1:c.133+52G>A	NP_001335874.1:n.133+52G>A
NM_000927.5:c.-173G>A	NP_000918.2:n.-173G>A
NM_001348944.2:c.-78+52G>A	NP_001335873.1:n.-78+52G>A
NM_001348945.2:c.133+52G>A	NP_001335874.1:n.133+52G>A