Canonical Allele Identifier: CA008848

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53144
• ClinVar RCV Id: RCV000057820
• dbSNP Id: rs199472749
• MyVariant Identifiers: chr11:g.2604690G>A (hg19) ; chr11:g.2583460G>A (hg38)
• PubMed: PMID:16414944 ; PMID:16922724 ; PMID:17905336 ; PMID:19808498 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583460G>A , CM000673.2:g.2583460G>A	GRCh38
NC_000011.9:g.2604690G>A , CM000673.1:g.2604690G>A	GRCh37
NC_000011.8:g.2561266G>A	NCBI36
NG_008935.1:g.143470G>A , LRG_287:g.143470G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.686G>A	ENSP00000434560.2:p.Gly229Glu
ENST00000646564.2:c.503G>A	ENSP00000495806.2:p.Gly168Glu
ENST00000155840.12:c.947G>A MANE Select	ENSP00000155840.2:p.Gly316Glu
ENST00000335475.6:c.566G>A	ENSP00000334497.5:p.Gly189Glu
ENST00000646564.1:c.149G>A	ENSP00000495806.1:p.Gly50Glu
ENST00000155840.9:c.947G>A	ENSP00000155840.2:p.Gly316Glu
ENST00000335475.5:c.566G>A	ENSP00000334497.5:p.Gly189Glu
NM_000218.2:c.947G>A , LRG_287t1:c.947G>A	NP_000209.2:p.Gly316Glu
NM_181798.1:c.566G>A , LRG_287t2:c.566G>A	NP_861463.1:p.Gly189Glu
NM_000218.3:c.947G>A MANE Select	NP_000209.2:p.Gly316Glu