Canonical Allele Identifier: CA005418
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67017
ClinVar RCV Id: RCV000057564 RCV001223785 RCV002054903
dbSNP Id: rs199473473
ExAC: 11:2608824 G / A
gnomAD v2: 11-2608824-G-A
gnomAD v3: 11-2587594-G-A
gnomAD v4: 11-2587594-G-A
MyVariant Identifiers: chr11:g.2608824G>A (hg19) chr11:g.2587594G>A (hg38)
PubMed: PMID:19716085 PMID:22429796 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2587594G>A , CM000673.2:g.2587594G>A GRCh38
NC_000011.9:g.2608824G>A , CM000673.1:g.2608824G>A GRCh37
NC_000011.8:g.2565400G>A NCBI36
NG_008935.1:g.147604G>A , LRG_287:g.147604G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.796G>A ENSP00000434560.2:p.Glu266Lys
ENST00000646564.2:c.613G>A ENSP00000495806.2:p.Glu205Lys
ENST00000155840.12:c.1153G>A MANE Select ENSP00000155840.2:p.Glu385Lys
ENST00000335475.6:c.772G>A ENSP00000334497.5:p.Glu258Lys
ENST00000646564.1:c.259G>A ENSP00000495806.1:p.Glu87Lys
ENST00000155840.9:c.1153G>A ENSP00000155840.2:p.Glu385Lys
ENST00000335475.5:c.772G>A ENSP00000334497.5:p.Glu258Lys
NM_000218.2:c.1153G>A , LRG_287t1:c.1153G>A NP_000209.2:p.Glu385Lys
NM_181798.1:c.772G>A , LRG_287t2:c.772G>A NP_861463.1:p.Glu258Lys
NM_000218.3:c.1153G>A MANE Select NP_000209.2:p.Glu385Lys
Search 100 bp 5'
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