Canonical Allele Identifier: CA1104126265
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1563037515
gnomAD v3: 7-87530919-A-G
gnomAD v4: 7-87530919-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530919A>G , CM000669.2:g.87530919A>G GRCh38
NC_000007.13:g.87160235A>G , CM000669.1:g.87160235A>G GRCh37
NC_000007.12:g.86998171A>G NCBI36
NG_011513.1:g.187330T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+375T>C ENSP00000265724.3:n.2685+375T>C
ENST00000622132.5:c.2685+375T>C MANE Select ENSP00000478255.1:n.2685+375T>C
ENST00000265724.7:c.2685+375T>C ENSP00000265724.3:n.2685+375T>C
ENST00000488737.6:n.327+375T>C
ENST00000496821.5:n.313+375T>C
ENST00000543898.5:c.2493+375T>C ENSP00000444095.1:n.2493+375T>C
ENST00000622132.4:c.2685+375T>C ENSP00000478255.1:n.2685+375T>C
NM_000927.4:c.2685+375T>C NP_000918.2:n.2685+375T>C
NM_001348944.1:c.2685+375T>C NP_001335873.1:n.2685+375T>C
NM_001348945.1:c.2895+375T>C NP_001335874.1:n.2895+375T>C
NM_001348946.1:c.2685+375T>C NP_001335875.1:n.2685+375T>C
NM_001348946.2:c.2685+375T>C MANE Select NP_001335875.1:n.2685+375T>C
NM_000927.5:c.2685+375T>C NP_000918.2:n.2685+375T>C
NM_001348944.2:c.2685+375T>C NP_001335873.1:n.2685+375T>C
NM_001348945.2:c.2895+375T>C NP_001335874.1:n.2895+375T>C