Canonical Allele Identifier: CA1104137037
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1819423869
gnomAD v3: 7-87600812-T-G
gnomAD v4: 7-87600812-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600812T>G , CM000669.2:g.87600812T>G GRCh38
NC_000007.13:g.87230128T>G , CM000669.1:g.87230128T>G GRCh37
NC_000007.12:g.87068064T>G NCBI36
NG_011513.1:g.117437A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.-64A>C ENSP00000265724.3:n.-64A>C
ENST00000622132.5:c.-64A>C MANE Select ENSP00000478255.1:n.-64A>C
ENST00000265724.7:c.-64A>C ENSP00000265724.3:n.-64A>C
ENST00000416177.1:c.-64A>C ENSP00000399419.1:n.-64A>C
ENST00000543898.5:c.-64A>C ENSP00000444095.1:n.-64A>C
ENST00000622132.4:c.-64A>C ENSP00000478255.1:n.-64A>C
NM_000927.4:c.-64A>C NP_000918.2:n.-64A>C
NM_001348944.1:c.-64A>C NP_001335873.1:n.-64A>C
NM_001348945.1:c.147A>C NP_001335874.1:p.Lys49Asn
NM_001348946.1:c.-64A>C NP_001335875.1:n.-64A>C
NM_001348946.2:c.-64A>C MANE Select NP_001335875.1:n.-64A>C
NM_000927.5:c.-64A>C NP_000918.2:n.-64A>C
NM_001348944.2:c.-64A>C NP_001335873.1:n.-64A>C
NM_001348945.2:c.147A>C NP_001335874.1:p.Lys49Asn