Canonical Allele Identifier: CA368062955

Gene: ABCB1

Linked Data

• dbSNP Id: rs777898226
• gnomAD v3: 7-87550472-A-T
• gnomAD v4: 7-87550472-A-T
• MyVariant Identifiers: chr7:g.87179788A>T (hg19) ; chr7:g.87550472A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1220T>A	ENSP00000265724.3:p.Val407Asp
ENST00000622132.5:c.1220T>A MANE Select	ENSP00000478255.1:p.Val407Asp
ENST00000265724.7:c.1220T>A	ENSP00000265724.3:p.Val407Asp
ENST00000543898.5:c.1028T>A	ENSP00000444095.1:p.Val343Asp
ENST00000622132.4:c.1220T>A	ENSP00000478255.1:p.Val407Asp
NM_000927.4:c.1220T>A	NP_000918.2:p.Val407Asp
NM_001348944.1:c.1220T>A	NP_001335873.1:p.Val407Asp
NM_001348945.1:c.1430T>A	NP_001335874.1:p.Val477Asp
NM_001348946.1:c.1220T>A	NP_001335875.1:p.Val407Asp
NM_001348946.2:c.1220T>A MANE Select	NP_001335875.1:p.Val407Asp
NM_000927.5:c.1220T>A	NP_000918.2:p.Val407Asp
NM_001348944.2:c.1220T>A	NP_001335873.1:p.Val407Asp
NM_001348945.2:c.1430T>A	NP_001335874.1:p.Val477Asp