Canonical Allele Identifier: CA368043314

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 828764
• ClinVar RCV Id: RCV001028675
• dbSNP Id: rs1584834617
• MyVariant Identifiers: chr7:g.87144545A>C (hg19) ; chr7:g.87515229A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87515229A>C , CM000669.2:g.87515229A>C	GRCh38
NC_000007.13:g.87144545A>C , CM000669.1:g.87144545A>C	GRCh37
NC_000007.12:g.86982481A>C	NCBI36
NG_011513.1:g.203020T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3282+2T>G	ENSP00000265724.3:n.3282+2T>G
ENST00000622132.5:c.3282+2T>G MANE Select	ENSP00000478255.1:n.3282+2T>G
ENST00000265724.7:c.3282+2T>G	ENSP00000265724.3:n.3282+2T>G
ENST00000475929.5:n.438+2T>G
ENST00000488737.6:n.924+2T>G
ENST00000496821.5:n.912T>G
ENST00000543898.5:c.3090+2T>G	ENSP00000444095.1:n.3090+2T>G
ENST00000622132.4:c.3282+2T>G	ENSP00000478255.1:n.3282+2T>G
NM_000927.4:c.3282+2T>G	NP_000918.2:n.3282+2T>G
NM_001348944.1:c.3282+2T>G	NP_001335873.1:n.3282+2T>G
NM_001348945.1:c.3492+2T>G	NP_001335874.1:n.3492+2T>G
NM_001348946.1:c.3282+2T>G	NP_001335875.1:n.3282+2T>G
NM_001348946.2:c.3282+2T>G MANE Select	NP_001335875.1:n.3282+2T>G
NM_000927.5:c.3282+2T>G	NP_000918.2:n.3282+2T>G
NM_001348944.2:c.3282+2T>G	NP_001335873.1:n.3282+2T>G
NM_001348945.2:c.3492+2T>G	NP_001335874.1:n.3492+2T>G