Canonical Allele Identifier: CA2683610115
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87600933-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600933C>G , CM000669.2:g.87600933C>G GRCh38
NC_000007.13:g.87230249C>G , CM000669.1:g.87230249C>G GRCh37
NC_000007.12:g.87068185C>G NCBI36
NG_011513.1:g.117316G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.-185G>C ENSP00000265724.3:n.-185G>C
ENST00000265724.7:c.-185G>C ENSP00000265724.3:n.-185G>C
ENST00000416177.1:c.-78+40G>C ENSP00000399419.1:n.-78+40G>C
ENST00000476862.1:n.462G>C
ENST00000543898.5:c.-185G>C ENSP00000444095.1:n.-185G>C
ENST00000622132.4:c.-185G>C ENSP00000478255.1:n.-185G>C
NM_000927.4:c.-185G>C NP_000918.2:n.-185G>C
NM_001348944.1:c.-78+40G>C NP_001335873.1:n.-78+40G>C
NM_001348945.1:c.133+40G>C NP_001335874.1:n.133+40G>C
NM_000927.5:c.-185G>C NP_000918.2:n.-185G>C
NM_001348944.2:c.-78+40G>C NP_001335873.1:n.-78+40G>C
NM_001348945.2:c.133+40G>C NP_001335874.1:n.133+40G>C