Canonical Allele Identifier: CA2683610058
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87600818-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600818G>T , CM000669.2:g.87600818G>T GRCh38
NC_000007.13:g.87230134G>T , CM000669.1:g.87230134G>T GRCh37
NC_000007.12:g.87068070G>T NCBI36
NG_011513.1:g.117431C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.-70C>A ENSP00000265724.3:n.-70C>A
ENST00000622132.5:c.-70C>A MANE Select ENSP00000478255.1:n.-70C>A
ENST00000265724.7:c.-70C>A ENSP00000265724.3:n.-70C>A
ENST00000416177.1:c.-70C>A ENSP00000399419.1:n.-70C>A
ENST00000476862.1:n.577C>A
ENST00000543898.5:c.-70C>A ENSP00000444095.1:n.-70C>A
ENST00000622132.4:c.-70C>A ENSP00000478255.1:n.-70C>A
NM_000927.4:c.-70C>A NP_000918.2:n.-70C>A
NM_001348944.1:c.-70C>A NP_001335873.1:n.-70C>A
NM_001348945.1:c.141C>A NP_001335874.1:p.Ser47=
NM_001348946.1:c.-70C>A NP_001335875.1:n.-70C>A
NM_001348946.2:c.-70C>A MANE Select NP_001335875.1:n.-70C>A
NM_000927.5:c.-70C>A NP_000918.2:n.-70C>A
NM_001348944.2:c.-70C>A NP_001335873.1:n.-70C>A
NM_001348945.2:c.141C>A NP_001335874.1:p.Ser47=