Canonical Allele Identifier: CA008122
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3118
ClinVar RCV Id: RCV000003265 RCV000057749 RCV000182109 RCV000190212 RCV000619506
dbSNP Id: rs120074179
gnomAD v4: 11-2572089-G-A
COSMIC: COSM5999423 COSM5999424
MyVariant Identifiers: chr11:g.2593319G>A (hg19) chr11:g.2572089G>A (hg38)
PubMed: PMID:8528244 PMID:9386136 PMID:10376919 PMID:10973849 PMID:12820704 PMID:14678125 PMID:14756674 PMID:15234419 PMID:15466642 PMID:15840476 PMID:16937190 PMID:17470695 PMID:19716085 PMID:19841300 PMID:22456477 PMID:22581653 PMID:22949429 PMID:23124029 PMID:26132555 PMID:26318259 PMID:27041096 PMID:28012188
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572089G>A , CM000673.2:g.2572089G>A GRCh38
NC_000011.9:g.2593319G>A , CM000673.1:g.2593319G>A GRCh37
NC_000011.8:g.2549895G>A NCBI36
NG_008935.1:g.132099G>A , LRG_287:g.132099G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.499G>A ENSP00000434560.2:p.Val167Met
ENST00000646564.2:c.478-11346G>A ENSP00000495806.2:n.478-11346G>A
ENST00000155840.12:c.760G>A MANE Select ENSP00000155840.2:p.Val254Met
ENST00000335475.6:c.379G>A ENSP00000334497.5:p.Val127Met
ENST00000646564.1:c.124-11346G>A ENSP00000495806.1:n.124-11346G>A
ENST00000155840.9:c.760G>A ENSP00000155840.2:p.Val254Met
ENST00000335475.5:c.379G>A ENSP00000334497.5:p.Val127Met
ENST00000496887.6:c.499G>A ENSP00000434560.1:p.Val167Met
NM_000218.2:c.760G>A , LRG_287t1:c.760G>A NP_000209.2:p.Val254Met
NM_181798.1:c.379G>A , LRG_287t2:c.379G>A NP_861463.1:p.Val127Met
NM_000218.3:c.760G>A MANE Select NP_000209.2:p.Val254Met
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