Canonical Allele Identifier: CA15500219

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 829316
• ClinVar RCV Id: RCV001029237
• dbSNP Id: rs3213619
• gnomAD v2: 7-87230193-A-G
• gnomAD v3: 7-87600877-A-G
• gnomAD v4: 7-87600877-A-G
• MyVariant Identifiers: chr7:g.87230193A>G (hg19) ; chr7:g.87600877A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87600877A>G , CM000669.2:g.87600877A>G	GRCh38
NC_000007.13:g.87230193A>G , CM000669.1:g.87230193A>G	GRCh37
NC_000007.12:g.87068129A>G	NCBI36
NG_011513.1:g.117372T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.-129T>C	ENSP00000265724.3:n.-129T>C
ENST00000622132.5:c.-129T>C MANE Select	ENSP00000478255.1:n.-129T>C
ENST00000265724.7:c.-129T>C	ENSP00000265724.3:n.-129T>C
ENST00000416177.1:c.-77-52T>C	ENSP00000399419.1:n.-77-52T>C
ENST00000476862.1:n.518T>C
ENST00000543898.5:c.-129T>C	ENSP00000444095.1:n.-129T>C
ENST00000622132.4:c.-129T>C	ENSP00000478255.1:n.-129T>C
NM_000927.4:c.-129T>C	NP_000918.2:n.-129T>C
NM_001348944.1:c.-77-52T>C	NP_001335873.1:n.-77-52T>C
NM_001348945.1:c.134-52T>C	NP_001335874.1:n.134-52T>C
NM_001348946.1:c.-129T>C	NP_001335875.1:n.-129T>C
NM_001348946.2:c.-129T>C MANE Select	NP_001335875.1:n.-129T>C
NM_000927.5:c.-129T>C	NP_000918.2:n.-129T>C
NM_001348944.2:c.-77-52T>C	NP_001335873.1:n.-77-52T>C
NM_001348945.2:c.134-52T>C	NP_001335874.1:n.134-52T>C