Canonical Allele Identifier: CA379121372

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1738716
• ClinVar RCV Id: RCV002327927
• MyVariant Identifiers: chr11:g.2549191C>A (hg19) ; chr11:g.2527961C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527961C>A , CM000673.2:g.2527961C>A	GRCh38
NC_000011.9:g.2549191C>A , CM000673.1:g.2549191C>A	GRCh37
NC_000011.8:g.2505767C>A	NCBI36
NG_008935.1:g.87971C>A , LRG_287:g.87971C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.217C>A
ENST00000496887.7:c.159C>A	ENSP00000434560.2:p.Ser53Arg
ENST00000646564.2:c.420C>A	ENSP00000495806.2:p.Ser140Arg
ENST00000155840.12:c.420C>A MANE Select	ENSP00000155840.2:p.Ser140Arg
ENST00000335475.6:c.39C>A	ENSP00000334497.5:p.Ser13Arg
ENST00000646564.1:c.66C>A	ENSP00000495806.1:p.Ser22Arg
ENST00000155840.9:c.420C>A	ENSP00000155840.2:p.Ser140Arg
ENST00000335475.5:c.39C>A	ENSP00000334497.5:p.Ser13Arg
ENST00000345015.4:n.289C>A
ENST00000380776.4:c.210C>A	ENSP00000370153.4:p.Ser70Arg
ENST00000496887.6:c.159C>A	ENSP00000434560.1:p.Ser53Arg
NM_000218.2:c.420C>A , LRG_287t1:c.420C>A	NP_000209.2:p.Ser140Arg
NM_181798.1:c.39C>A , LRG_287t2:c.39C>A	NP_861463.1:p.Ser13Arg
NM_000218.3:c.420C>A MANE Select	NP_000209.2:p.Ser140Arg