Canonical Allele Identifier: CA4328372

Gene: ABCB1

Linked Data

• dbSNP Id: rs777898226
• ExAC: 7:87179788 A / C
• gnomAD v2: 7-87179788-A-C
• MyVariant Identifiers: chr7:g.87179788A>C (hg19) ; chr7:g.87550472A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550472A>C , CM000669.2:g.87550472A>C	GRCh38
NC_000007.13:g.87179788A>C , CM000669.1:g.87179788A>C	GRCh37
NC_000007.12:g.87017724A>C	NCBI36
NG_011513.1:g.167777T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1220T>G	ENSP00000265724.3:p.Val407Gly
ENST00000622132.5:c.1220T>G MANE Select	ENSP00000478255.1:p.Val407Gly
ENST00000265724.7:c.1220T>G	ENSP00000265724.3:p.Val407Gly
ENST00000543898.5:c.1028T>G	ENSP00000444095.1:p.Val343Gly
ENST00000622132.4:c.1220T>G	ENSP00000478255.1:p.Val407Gly
NM_000927.4:c.1220T>G	NP_000918.2:p.Val407Gly
NM_001348944.1:c.1220T>G	NP_001335873.1:p.Val407Gly
NM_001348945.1:c.1430T>G	NP_001335874.1:p.Val477Gly
NM_001348946.1:c.1220T>G	NP_001335875.1:p.Val407Gly
NM_001348946.2:c.1220T>G MANE Select	NP_001335875.1:p.Val407Gly
NM_000927.5:c.1220T>G	NP_000918.2:p.Val407Gly
NM_001348944.2:c.1220T>G	NP_001335873.1:p.Val407Gly
NM_001348945.2:c.1430T>G	NP_001335874.1:p.Val477Gly