Canonical Allele Identifier: CA007208

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53049
• ClinVar RCV Id: RCV000057681 ; RCV002336180 ; RCV002514225
• dbSNP Id: rs199473453
• MyVariant Identifiers: chr11:g.2591858G>A (hg19) ; chr11:g.2570628G>A (hg38)
• PubMed: PMID:10973849 ; PMID:15840476 ; PMID:17470695 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570628G>A , CM000673.2:g.2570628G>A	GRCh38
NC_000011.9:g.2591858G>A , CM000673.1:g.2591858G>A	GRCh37
NC_000011.8:g.2548434G>A	NCBI36
NG_008935.1:g.130638G>A , LRG_287:g.130638G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.217G>A	ENSP00000434560.2:p.Glu73Lys
ENST00000646564.2:c.478-12807G>A	ENSP00000495806.2:n.478-12807G>A
ENST00000155840.12:c.478G>A MANE Select	ENSP00000155840.2:p.Glu160Lys
ENST00000335475.6:c.97G>A	ENSP00000334497.5:p.Glu33Lys
ENST00000646564.1:c.124-12807G>A	ENSP00000495806.1:n.124-12807G>A
ENST00000155840.9:c.478G>A	ENSP00000155840.2:p.Glu160Lys
ENST00000335475.5:c.97G>A	ENSP00000334497.5:p.Glu33Lys
ENST00000496887.6:c.217G>A	ENSP00000434560.1:p.Glu73Lys
NM_000218.2:c.478G>A , LRG_287t1:c.478G>A	NP_000209.2:p.Glu160Lys
NM_181798.1:c.97G>A , LRG_287t2:c.97G>A	NP_861463.1:p.Glu33Lys
NM_000218.3:c.478G>A MANE Select	NP_000209.2:p.Glu160Lys