Canonical Allele Identifier: CA4328313

Gene: ABCB1

Linked Data

• dbSNP Id: rs200183659
• ExAC: 7:87179304 C / T
• gnomAD v2: 7-87179304-C-T
• gnomAD v3: 7-87549988-C-T
• gnomAD v4: 7-87549988-C-T
• MyVariant Identifiers: chr7:g.87179304C>T (hg19) ; chr7:g.87549988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87549988C>T , CM000669.2:g.87549988C>T	GRCh38
NC_000007.13:g.87179304C>T , CM000669.1:g.87179304C>T	GRCh37
NC_000007.12:g.87017240C>T	NCBI36
NG_011513.1:g.168261G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1417G>A	ENSP00000265724.3:p.Val473Met
ENST00000622132.5:c.1417G>A MANE Select	ENSP00000478255.1:p.Val473Met
ENST00000265724.7:c.1417G>A	ENSP00000265724.3:p.Val473Met
ENST00000482527.1:n.171G>A
ENST00000543898.5:c.1225G>A	ENSP00000444095.1:p.Val409Met
ENST00000622132.4:c.1417G>A	ENSP00000478255.1:p.Val473Met
NM_000927.4:c.1417G>A	NP_000918.2:p.Val473Met
NM_001348944.1:c.1417G>A	NP_001335873.1:p.Val473Met
NM_001348945.1:c.1627G>A	NP_001335874.1:p.Val543Met
NM_001348946.1:c.1417G>A	NP_001335875.1:p.Val473Met
NM_001348946.2:c.1417G>A MANE Select	NP_001335875.1:p.Val473Met
NM_000927.5:c.1417G>A	NP_000918.2:p.Val473Met
NM_001348944.2:c.1417G>A	NP_001335873.1:p.Val473Met
NM_001348945.2:c.1627G>A	NP_001335874.1:p.Val543Met