Canonical Allele Identifier: CA006347
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3140
ClinVar RCV Id: 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
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'