Canonical Allele Identifier: CA576267646
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs996106913
gnomAD v2: 7-87179401-C-A
gnomAD v4: 7-87550085-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550085C>A , CM000669.2:g.87550085C>A GRCh38
NC_000007.13:g.87179401C>A , CM000669.1:g.87179401C>A GRCh37
NC_000007.12:g.87017337C>A NCBI36
NG_011513.1:g.168164G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1351-31G>T ENSP00000265724.3:n.1351-31G>T
ENST00000622132.5:c.1351-31G>T MANE Select ENSP00000478255.1:n.1351-31G>T
ENST00000265724.7:c.1351-31G>T ENSP00000265724.3:n.1351-31G>T
ENST00000482527.1:n.74G>T
ENST00000543898.5:c.1159-31G>T ENSP00000444095.1:n.1159-31G>T
ENST00000622132.4:c.1351-31G>T ENSP00000478255.1:n.1351-31G>T
NM_000927.4:c.1351-31G>T NP_000918.2:n.1351-31G>T
NM_001348944.1:c.1351-31G>T NP_001335873.1:n.1351-31G>T
NM_001348945.1:c.1561-31G>T NP_001335874.1:n.1561-31G>T
NM_001348946.1:c.1351-31G>T NP_001335875.1:n.1351-31G>T
NM_001348946.2:c.1351-31G>T MANE Select NP_001335875.1:n.1351-31G>T
NM_000927.5:c.1351-31G>T NP_000918.2:n.1351-31G>T
NM_001348944.2:c.1351-31G>T NP_001335873.1:n.1351-31G>T
NM_001348945.2:c.1561-31G>T NP_001335874.1:n.1561-31G>T