Canonical Allele Identifier: CA575862167

Gene: ABCB1

Linked Data

• dbSNP Id: rs1220118559
• gnomAD v2: 7-87165601-T-G
• gnomAD v3: 7-87536285-T-G
• gnomAD v4: 7-87536285-T-G
• MyVariant Identifiers: chr7:g.87165601T>G (hg19) ; chr7:g.87536285T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87536285T>G , CM000669.2:g.87536285T>G	GRCh38
NC_000007.13:g.87165601T>G , CM000669.1:g.87165601T>G	GRCh37
NC_000007.12:g.87003537T>G	NCBI36
NG_011513.1:g.181964A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2481+173A>C	ENSP00000265724.3:n.2481+173A>C
ENST00000622132.5:c.2481+173A>C MANE Select	ENSP00000478255.1:n.2481+173A>C
ENST00000265724.7:c.2481+173A>C	ENSP00000265724.3:n.2481+173A>C
ENST00000496821.5:n.109+173A>C
ENST00000543898.5:c.2289+173A>C	ENSP00000444095.1:n.2289+173A>C
ENST00000622132.4:c.2481+173A>C	ENSP00000478255.1:n.2481+173A>C
NM_000927.4:c.2481+173A>C	NP_000918.2:n.2481+173A>C
NM_001348944.1:c.2481+173A>C	NP_001335873.1:n.2481+173A>C
NM_001348945.1:c.2691+173A>C	NP_001335874.1:n.2691+173A>C
NM_001348946.1:c.2481+173A>C	NP_001335875.1:n.2481+173A>C
NM_001348946.2:c.2481+173A>C MANE Select	NP_001335875.1:n.2481+173A>C
NM_000927.5:c.2481+173A>C	NP_000918.2:n.2481+173A>C
NM_001348944.2:c.2481+173A>C	NP_001335873.1:n.2481+173A>C
NM_001348945.2:c.2691+173A>C	NP_001335874.1:n.2691+173A>C