Canonical Allele Identifier: CA035093
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 264125
ClinVar RCV Id: RCV000246178 RCV001405895
dbSNP Id: rs758960211
ExAC: 11:2466673 G / A
gnomAD v2: 11-2466673-G-A
gnomAD v3: 11-2445443-G-A
gnomAD v4: 11-2445443-G-A
MyVariant Identifiers: chr11:g.2466673G>A (hg19) chr11:g.2445443G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445443G>A , CM000673.2:g.2445443G>A GRCh38
NC_000011.9:g.2466673G>A , CM000673.1:g.2466673G>A GRCh37
NC_000011.8:g.2423249G>A NCBI36
NG_008935.1:g.5453G>A , LRG_287:g.5453G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.84G>A ENSP00000434560.2:p.Glu28=
ENST00000646564.2:c.345G>A ENSP00000495806.2:p.Glu115=
ENST00000155840.12:c.345G>A MANE Select ENSP00000155840.2:p.Glu115=
ENST00000155840.9:c.345G>A ENSP00000155840.2:p.Glu115=
ENST00000345015.4:n.122G>A
ENST00000496887.6:c.84G>A ENSP00000434560.1:p.Glu28=
NM_000218.2:c.345G>A , LRG_287t1:c.345G>A NP_000209.2:p.Glu115=
NM_000218.3:c.345G>A MANE Select NP_000209.2:p.Glu115=
Search 100 bp 5'
Search 100 bp 3'