Canonical Allele Identifier: CA4328713

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 2355633
• ClinVar RCV Id: RCV002946767
• dbSNP Id: rs200915526
• ExAC: 7:87229445 A / T
• gnomAD v2: 7-87229445-A-T
• gnomAD v3: 7-87600129-A-T
• gnomAD v4: 7-87600129-A-T
• MyVariant Identifiers: chr7:g.87229445A>T (hg19) ; chr7:g.87600129A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87600129A>T , CM000669.2:g.87600129A>T	GRCh38
NC_000007.13:g.87229445A>T , CM000669.1:g.87229445A>T	GRCh37
NC_000007.12:g.87067381A>T	NCBI36
NG_011513.1:g.118120T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.56T>A	ENSP00000265724.3:p.Leu19Gln
ENST00000622132.5:c.56T>A MANE Select	ENSP00000478255.1:p.Leu19Gln
ENST00000265724.7:c.56T>A	ENSP00000265724.3:p.Leu19Gln
ENST00000416177.1:c.56T>A	ENSP00000399419.1:p.Leu19Gln
ENST00000543898.5:c.56T>A	ENSP00000444095.1:p.Leu19Gln
ENST00000622132.4:c.56T>A	ENSP00000478255.1:p.Leu19Gln
NM_000927.4:c.56T>A	NP_000918.2:p.Leu19Gln
NM_001348944.1:c.56T>A	NP_001335873.1:p.Leu19Gln
NM_001348945.1:c.266T>A	NP_001335874.1:p.Leu89Gln
NM_001348946.1:c.56T>A	NP_001335875.1:p.Leu19Gln
NM_001348946.2:c.56T>A MANE Select	NP_001335875.1:p.Leu19Gln
NM_000927.5:c.56T>A	NP_000918.2:p.Leu19Gln
NM_001348944.2:c.56T>A	NP_001335873.1:p.Leu19Gln
NM_001348945.2:c.266T>A	NP_001335874.1:p.Leu89Gln