Canonical Allele Identifier: CA2683610103
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87600911-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600911A>G , CM000669.2:g.87600911A>G GRCh38
NC_000007.13:g.87230227A>G , CM000669.1:g.87230227A>G GRCh37
NC_000007.12:g.87068163A>G NCBI36
NG_011513.1:g.117338T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.-163T>C ENSP00000265724.3:n.-163T>C
ENST00000265724.7:c.-163T>C ENSP00000265724.3:n.-163T>C
ENST00000416177.1:c.-78+62T>C ENSP00000399419.1:n.-78+62T>C
ENST00000476862.1:n.484T>C
ENST00000543898.5:c.-163T>C ENSP00000444095.1:n.-163T>C
ENST00000622132.4:c.-163T>C ENSP00000478255.1:n.-163T>C
NM_000927.4:c.-163T>C NP_000918.2:n.-163T>C
NM_001348944.1:c.-78+62T>C NP_001335873.1:n.-78+62T>C
NM_001348945.1:c.133+62T>C NP_001335874.1:n.133+62T>C
NM_000927.5:c.-163T>C NP_000918.2:n.-163T>C
NM_001348944.2:c.-78+62T>C NP_001335873.1:n.-78+62T>C
NM_001348945.2:c.133+62T>C NP_001335874.1:n.133+62T>C