Canonical Allele Identifier: CA4327818

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 828762
• ClinVar RCV Id: RCV001028673
• dbSNP Id: rs776827328
• ExAC: 7:87144552 T / C
• gnomAD v2: 7-87144552-T-C
• MyVariant Identifiers: chr7:g.87144552T>C (hg19) ; chr7:g.87515236T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87515236T>C , CM000669.2:g.87515236T>C	GRCh38
NC_000007.13:g.87144552T>C , CM000669.1:g.87144552T>C	GRCh37
NC_000007.12:g.86982488T>C	NCBI36
NG_011513.1:g.203013A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3277A>G	ENSP00000265724.3:p.Lys1093Glu
ENST00000622132.5:c.3277A>G MANE Select	ENSP00000478255.1:p.Lys1093Glu
ENST00000265724.7:c.3277A>G	ENSP00000265724.3:p.Lys1093Glu
ENST00000475929.5:n.433A>G
ENST00000488737.6:n.919A>G
ENST00000496821.5:n.905A>G
ENST00000543898.5:c.3085A>G	ENSP00000444095.1:p.Lys1029Glu
ENST00000622132.4:c.3277A>G	ENSP00000478255.1:p.Lys1093Glu
NM_000927.4:c.3277A>G	NP_000918.2:p.Lys1093Glu
NM_001348944.1:c.3277A>G	NP_001335873.1:p.Lys1093Glu
NM_001348945.1:c.3487A>G	NP_001335874.1:p.Lys1163Glu
NM_001348946.1:c.3277A>G	NP_001335875.1:p.Lys1093Glu
NM_001348946.2:c.3277A>G MANE Select	NP_001335875.1:p.Lys1093Glu
NM_000927.5:c.3277A>G	NP_000918.2:p.Lys1093Glu
NM_001348944.2:c.3277A>G	NP_001335873.1:p.Lys1093Glu
NM_001348945.2:c.3487A>G	NP_001335874.1:p.Lys1163Glu