Canonical Allele Identifier: CA008532

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67118
• ClinVar RCV Id: RCV000057786 ; RCV000182309 ; RCV001258359 ; RCV001841693 ; RCV002513751 ; RCV004019001
• dbSNP Id: rs199473465
• ExAC: 11:2594173 G / A
• gnomAD v2: 11-2594173-G-A
• gnomAD v4: 11-2572943-G-A
• COSMIC: COSM146339
• MyVariant Identifiers: chr11:g.2594173G>A (hg19) ; chr11:g.2572943G>A (hg38)
• PubMed: PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572943G>A , CM000673.2:g.2572943G>A	GRCh38
NC_000011.9:g.2594173G>A , CM000673.1:g.2594173G>A	GRCh37
NC_000011.8:g.2550749G>A	NCBI36
NG_008935.1:g.132953G>A , LRG_287:g.132953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.617G>A	ENSP00000434560.2:p.Arg206His
ENST00000646564.2:c.478-10492G>A	ENSP00000495806.2:n.478-10492G>A
ENST00000155840.12:c.878G>A MANE Select	ENSP00000155840.2:p.Arg293His
ENST00000335475.6:c.497G>A	ENSP00000334497.5:p.Arg166His
ENST00000646564.1:c.124-10492G>A	ENSP00000495806.1:n.124-10492G>A
ENST00000155840.9:c.878G>A	ENSP00000155840.2:p.Arg293His
ENST00000335475.5:c.497G>A	ENSP00000334497.5:p.Arg166His
NM_000218.2:c.878G>A , LRG_287t1:c.878G>A	NP_000209.2:p.Arg293His
NM_181798.1:c.497G>A , LRG_287t2:c.497G>A	NP_861463.1:p.Arg166His
NM_000218.3:c.878G>A MANE Select	NP_000209.2:p.Arg293His