Canonical Allele Identifier: CA1104131523
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1815023482
gnomAD v3: 7-87511825-C-T
gnomAD v4: 7-87511825-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87511825C>T , CM000669.2:g.87511825C>T GRCh38
NC_000007.13:g.87141141C>T , CM000669.1:g.87141141C>T GRCh37
NC_000007.12:g.86979077C>T NCBI36
NG_011513.1:g.206424G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.3283-2344G>A ENSP00000265724.3:n.3283-2344G>A
ENST00000622132.5:c.3283-2344G>A MANE Select ENSP00000478255.1:n.3283-2344G>A
ENST00000265724.7:c.3283-2344G>A ENSP00000265724.3:n.3283-2344G>A
ENST00000475929.5:n.439-2344G>A
ENST00000488737.6:n.925-2344G>A
ENST00000543898.5:c.3091-2344G>A ENSP00000444095.1:n.3091-2344G>A
ENST00000622132.4:c.3283-2344G>A ENSP00000478255.1:n.3283-2344G>A
NM_000927.4:c.3283-2344G>A NP_000918.2:n.3283-2344G>A
NM_001348944.1:c.3283-2344G>A NP_001335873.1:n.3283-2344G>A
NM_001348945.1:c.3493-2344G>A NP_001335874.1:n.3493-2344G>A
NM_001348946.1:c.3283-2344G>A NP_001335875.1:n.3283-2344G>A
NM_001348946.2:c.3283-2344G>A MANE Select NP_001335875.1:n.3283-2344G>A
NM_000927.5:c.3283-2344G>A NP_000918.2:n.3283-2344G>A
NM_001348944.2:c.3283-2344G>A NP_001335873.1:n.3283-2344G>A
NM_001348945.2:c.3493-2344G>A NP_001335874.1:n.3493-2344G>A