Canonical Allele Identifier: CA2683610134
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87600964-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600964C>A , CM000669.2:g.87600964C>A GRCh38
NC_000007.13:g.87230280C>A , CM000669.1:g.87230280C>A GRCh37
NC_000007.12:g.87068216C>A NCBI36
NG_011513.1:g.117285G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.-216G>T ENSP00000265724.3:n.-216G>T
ENST00000265724.7:c.-216G>T ENSP00000265724.3:n.-216G>T
ENST00000416177.1:c.-78+9G>T ENSP00000399419.1:n.-78+9G>T
ENST00000476862.1:n.431G>T
ENST00000543898.5:c.-216G>T ENSP00000444095.1:n.-216G>T
ENST00000622132.4:c.-216G>T ENSP00000478255.1:n.-216G>T
NM_000927.4:c.-216G>T NP_000918.2:n.-216G>T
NM_001348944.1:c.-78+9G>T NP_001335873.1:n.-78+9G>T
NM_001348945.1:c.133+9G>T NP_001335874.1:n.133+9G>T
NM_000927.5:c.-216G>T NP_000918.2:n.-216G>T
NM_001348944.2:c.-78+9G>T NP_001335873.1:n.-78+9G>T
NM_001348945.2:c.133+9G>T NP_001335874.1:n.133+9G>T