Canonical Allele Identifier: CA008823

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53142
• ClinVar RCV Id: RCV000057818 ; RCV000182139 ; RCV001368547 ; RCV003327365
• dbSNP Id: rs104894255
• MyVariant Identifiers: chr11:g.2604689G>A (hg19) ; chr11:g.2583459G>A (hg38)
• PubMed: PMID:15840476 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583459G>A , CM000673.2:g.2583459G>A	GRCh38
NC_000011.9:g.2604689G>A , CM000673.1:g.2604689G>A	GRCh37
NC_000011.8:g.2561265G>A	NCBI36
NG_008935.1:g.143469G>A , LRG_287:g.143469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.685G>A	ENSP00000434560.2:p.Gly229Arg
ENST00000646564.2:c.502G>A	ENSP00000495806.2:p.Gly168Arg
ENST00000155840.12:c.946G>A MANE Select	ENSP00000155840.2:p.Gly316Arg
ENST00000335475.6:c.565G>A	ENSP00000334497.5:p.Gly189Arg
ENST00000646564.1:c.148G>A	ENSP00000495806.1:p.Gly50Arg
ENST00000155840.9:c.946G>A	ENSP00000155840.2:p.Gly316Arg
ENST00000335475.5:c.565G>A	ENSP00000334497.5:p.Gly189Arg
NM_000218.2:c.946G>A , LRG_287t1:c.946G>A	NP_000209.2:p.Gly316Arg
NM_181798.1:c.565G>A , LRG_287t2:c.565G>A	NP_861463.1:p.Gly189Arg
NM_000218.3:c.946G>A MANE Select	NP_000209.2:p.Gly316Arg