Canonical Allele Identifier: CA007090
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53043
ClinVar RCV Id: RCV000057676 RCV001341212 RCV001841644 RCV001556734
dbSNP Id: rs199472688
ExAC: 11:2549207 G / A
gnomAD v2: 11-2549207-G-A
gnomAD v4: 11-2527977-G-A
COSMIC: COSM5372296 COSM5372297
MyVariant Identifiers: chr11:g.2549207G>A (hg19) chr11:g.2527977G>A (hg38)
PubMed: PMID:16414944 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2527977G>A , CM000673.2:g.2527977G>A GRCh38
NC_000011.9:g.2549207G>A , CM000673.1:g.2549207G>A GRCh37
NC_000011.8:g.2505783G>A NCBI36
NG_008935.1:g.87987G>A , LRG_287:g.87987G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.175G>A ENSP00000434560.2:p.Glu59Lys
ENST00000646564.2:c.436G>A ENSP00000495806.2:p.Glu146Lys
ENST00000155840.12:c.436G>A MANE Select ENSP00000155840.2:p.Glu146Lys
ENST00000335475.6:c.55G>A ENSP00000334497.5:p.Glu19Lys
ENST00000646564.1:c.82G>A ENSP00000495806.1:p.Glu28Lys
ENST00000155840.9:c.436G>A ENSP00000155840.2:p.Glu146Lys
ENST00000335475.5:c.55G>A ENSP00000334497.5:p.Glu19Lys
ENST00000496887.6:c.175G>A ENSP00000434560.1:p.Glu59Lys
NM_000218.2:c.436G>A , LRG_287t1:c.436G>A NP_000209.2:p.Glu146Lys
NM_181798.1:c.55G>A , LRG_287t2:c.55G>A NP_861463.1:p.Glu19Lys
NM_000218.3:c.436G>A MANE Select NP_000209.2:p.Glu146Lys
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