Canonical Allele Identifier: CA379117608
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1343280
ClinVar RCV Id: RCV001843882
dbSNP Id: rs758960211
MyVariant Identifiers: chr11:g.2466673G>C (hg19) chr11:g.2445443G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.84G>C ENSP00000434560.2:p.Glu28Asp
ENST00000646564.2:c.345G>C ENSP00000495806.2:p.Glu115Asp
ENST00000155840.12:c.345G>C MANE Select ENSP00000155840.2:p.Glu115Asp
ENST00000155840.9:c.345G>C ENSP00000155840.2:p.Glu115Asp
ENST00000345015.4:n.122G>C
ENST00000496887.6:c.84G>C ENSP00000434560.1:p.Glu28Asp
NM_000218.2:c.345G>C , LRG_287t1:c.345G>C NP_000209.2:p.Glu115Asp
NM_000218.3:c.345G>C MANE Select NP_000209.2:p.Glu115Asp
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