Canonical Allele Identifier: CA1104131810
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1816723787
gnomAD v3: 7-87545238-A-G
gnomAD v4: 7-87545238-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87545238A>G , CM000669.2:g.87545238A>G GRCh38
NC_000007.13:g.87174554A>G , CM000669.1:g.87174554A>G GRCh37
NC_000007.12:g.87012490A>G NCBI36
NG_011513.1:g.173011T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1888-239T>C ENSP00000265724.3:n.1888-239T>C
ENST00000622132.5:c.1888-239T>C MANE Select ENSP00000478255.1:n.1888-239T>C
ENST00000265724.7:c.1888-239T>C ENSP00000265724.3:n.1888-239T>C
ENST00000543898.5:c.1696-239T>C ENSP00000444095.1:n.1696-239T>C
ENST00000622132.4:c.1888-239T>C ENSP00000478255.1:n.1888-239T>C
NM_000927.4:c.1888-239T>C NP_000918.2:n.1888-239T>C
NM_001348944.1:c.1888-239T>C NP_001335873.1:n.1888-239T>C
NM_001348945.1:c.2098-239T>C NP_001335874.1:n.2098-239T>C
NM_001348946.1:c.1888-239T>C NP_001335875.1:n.1888-239T>C
NM_001348946.2:c.1888-239T>C MANE Select NP_001335875.1:n.1888-239T>C
NM_000927.5:c.1888-239T>C NP_000918.2:n.1888-239T>C
NM_001348944.2:c.1888-239T>C NP_001335873.1:n.1888-239T>C
NM_001348945.2:c.2098-239T>C NP_001335874.1:n.2098-239T>C