Canonical Allele Identifier: CA368049963
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87520787C>G , CM000669.2:g.87520787C>G GRCh38
NC_000007.13:g.87150103C>G , CM000669.1:g.87150103C>G GRCh37
NC_000007.12:g.86988039C>G NCBI36
NG_011513.1:g.197462G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2775G>C ENSP00000265724.3:p.Gln925His
ENST00000622132.5:c.2775G>C MANE Select ENSP00000478255.1:p.Gln925His
ENST00000265724.7:c.2775G>C ENSP00000265724.3:p.Gln925His
ENST00000483831.1:n.333G>C
ENST00000488737.6:n.417G>C
ENST00000496821.5:n.403G>C
ENST00000543898.5:c.2583G>C ENSP00000444095.1:p.Gln861His
ENST00000622132.4:c.2775G>C ENSP00000478255.1:p.Gln925His
NM_000927.4:c.2775G>C NP_000918.2:p.Gln925His
NM_001348944.1:c.2775G>C NP_001335873.1:p.Gln925His
NM_001348945.1:c.2985G>C NP_001335874.1:p.Gln995His
NM_001348946.1:c.2775G>C NP_001335875.1:p.Gln925His
NM_001348946.2:c.2775G>C MANE Select NP_001335875.1:p.Gln925His
NM_000927.5:c.2775G>C NP_000918.2:p.Gln925His
NM_001348944.2:c.2775G>C NP_001335873.1:p.Gln925His
NM_001348945.2:c.2985G>C NP_001335874.1:p.Gln995His