Canonical Allele Identifier: CA575860434
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs746205498
gnomAD v2: 7-87144520-C-G
gnomAD v3: 7-87515204-C-G
gnomAD v4: 7-87515204-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87515204C>G , CM000669.2:g.87515204C>G GRCh38
NC_000007.13:g.87144520C>G , CM000669.1:g.87144520C>G GRCh37
NC_000007.12:g.86982456C>G NCBI36
NG_011513.1:g.203045G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.3282+27G>C ENSP00000265724.3:n.3282+27G>C
ENST00000622132.5:c.3282+27G>C MANE Select ENSP00000478255.1:n.3282+27G>C
ENST00000265724.7:c.3282+27G>C ENSP00000265724.3:n.3282+27G>C
ENST00000475929.5:n.438+27G>C
ENST00000488737.6:n.924+27G>C
ENST00000543898.5:c.3090+27G>C ENSP00000444095.1:n.3090+27G>C
ENST00000622132.4:c.3282+27G>C ENSP00000478255.1:n.3282+27G>C
NM_000927.4:c.3282+27G>C NP_000918.2:n.3282+27G>C
NM_001348944.1:c.3282+27G>C NP_001335873.1:n.3282+27G>C
NM_001348945.1:c.3492+27G>C NP_001335874.1:n.3492+27G>C
NM_001348946.1:c.3282+27G>C NP_001335875.1:n.3282+27G>C
NM_001348946.2:c.3282+27G>C MANE Select NP_001335875.1:n.3282+27G>C
NM_000927.5:c.3282+27G>C NP_000918.2:n.3282+27G>C
NM_001348944.2:c.3282+27G>C NP_001335873.1:n.3282+27G>C
NM_001348945.2:c.3492+27G>C NP_001335874.1:n.3492+27G>C