Canonical Allele Identifier: CA006347

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3140
• ClinVar RCV Id: RCV000003288 ; RCV000003289 ; RCV000057633 ; RCV000182223 ; RCV000622145 ; RCV000699476 ; RCV001258106 ; RCV001841227
• dbSNP Id: rs120074190
• ExAC: 11:2799239 G / A
• gnomAD v2: 11-2799239-G-A
• gnomAD v3: 11-2778009-G-A
• gnomAD v4: 11-2778009-G-A
• MyVariant Identifiers: chr11:g.2799239G>A (hg19) ; chr11:g.2778009G>A (hg38)
• PubMed: PMID:10483966 ; PMID:11216980 ; PMID:11799244 ; PMID:12402336 ; PMID:12477631 ; PMID:12690509 ; PMID:15140888 ; PMID:15528464 ; PMID:17329207 ; PMID:17329209 ; PMID:17467628 ; PMID:18165683 ; PMID:19160088 ; PMID:19716085 ; PMID:20226272 ; PMID:20659946 ; PMID:22095730 ; PMID:22581653 ; PMID:23098067 ; PMID:25344363 ; PMID:28619993

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778009G>A , CM000673.2:g.2778009G>A	GRCh38
NC_000011.9:g.2799239G>A , CM000673.1:g.2799239G>A	GRCh37
NC_000011.8:g.2755815G>A	NCBI36
NG_008935.1:g.338019G>A , LRG_287:g.338019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1409G>A	ENSP00000434560.2:p.Gly470Asp
ENST00000646564.2:c.1226G>A	ENSP00000495806.2:p.Gly409Asp
ENST00000155840.12:c.1766G>A MANE Select	ENSP00000155840.2:p.Gly589Asp
ENST00000335475.6:c.1385G>A	ENSP00000334497.5:p.Gly462Asp
ENST00000526095.2:c.170G>A	ENSP00000494939.1:p.Gly57Asp
ENST00000646564.1:c.872G>A	ENSP00000495806.1:p.Gly291Asp
ENST00000155840.9:c.1766G>A	ENSP00000155840.2:p.Gly589Asp
ENST00000335475.5:c.1385G>A	ENSP00000334497.5:p.Gly462Asp
ENST00000526095.1:n.273G>A
NM_000218.2:c.1766G>A , LRG_287t1:c.1766G>A	NP_000209.2:p.Gly589Asp
NM_181798.1:c.1385G>A , LRG_287t2:c.1385G>A	NP_861463.1:p.Gly462Asp
NM_000218.3:c.1766G>A MANE Select	NP_000209.2:p.Gly589Asp