Canonical Allele Identifier: CA008229

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53104
• ClinVar RCV Id: RCV000057760 ; RCV001381194
• dbSNP Id: rs199472721
• MyVariant Identifiers: chr11:g.2594078G>C (hg19) ; chr11:g.2572848G>C (hg38)
• PubMed: PMID:10704188 ; PMID:11140949 ; PMID:11530100 ; PMID:15840476 ; PMID:15935335 ; PMID:17999538 ; PMID:18752142 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572848G>C , CM000673.2:g.2572848G>C	GRCh38
NC_000011.9:g.2594078G>C , CM000673.1:g.2594078G>C	GRCh37
NC_000011.8:g.2550654G>C	NCBI36
NG_008935.1:g.132858G>C , LRG_287:g.132858G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.522G>C	ENSP00000434560.2:p.Glu174Asp
ENST00000646564.2:c.478-10587G>C	ENSP00000495806.2:n.478-10587G>C
ENST00000155840.12:c.783G>C MANE Select	ENSP00000155840.2:p.Glu261Asp
ENST00000335475.6:c.402G>C	ENSP00000334497.5:p.Glu134Asp
ENST00000646564.1:c.124-10587G>C	ENSP00000495806.1:n.124-10587G>C
ENST00000155840.9:c.783G>C	ENSP00000155840.2:p.Glu261Asp
ENST00000335475.5:c.402G>C	ENSP00000334497.5:p.Glu134Asp
ENST00000496887.6:c.522G>C	ENSP00000434560.1:p.Glu174Asp
NM_000218.2:c.783G>C , LRG_287t1:c.783G>C	NP_000209.2:p.Glu261Asp
NM_181798.1:c.402G>C , LRG_287t2:c.402G>C	NP_861463.1:p.Glu134Asp
NM_000218.3:c.783G>C MANE Select	NP_000209.2:p.Glu261Asp