Canonical Allele Identifier: CA008167

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53099
• ClinVar RCV Id: RCV000057754 ; RCV000182111 ; RCV004018951
• dbSNP Id: rs199472718
• MyVariant Identifiers: chr11:g.2593332A>G (hg19) ; chr11:g.2572102A>G (hg38)
• PubMed: PMID:16414944 ; PMID:19913547 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572102A>G , CM000673.2:g.2572102A>G	GRCh38
NC_000011.9:g.2593332A>G , CM000673.1:g.2593332A>G	GRCh37
NC_000011.8:g.2549908A>G	NCBI36
NG_008935.1:g.132112A>G , LRG_287:g.132112A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.512A>G	ENSP00000434560.2:p.His171Arg
ENST00000646564.2:c.478-11333A>G	ENSP00000495806.2:n.478-11333A>G
ENST00000155840.12:c.773A>G MANE Select	ENSP00000155840.2:p.His258Arg
ENST00000335475.6:c.392A>G	ENSP00000334497.5:p.His131Arg
ENST00000646564.1:c.124-11333A>G	ENSP00000495806.1:n.124-11333A>G
ENST00000155840.9:c.773A>G	ENSP00000155840.2:p.His258Arg
ENST00000335475.5:c.392A>G	ENSP00000334497.5:p.His131Arg
ENST00000496887.6:c.512A>G	ENSP00000434560.1:p.His171Arg
NM_000218.2:c.773A>G , LRG_287t1:c.773A>G	NP_000209.2:p.His258Arg
NM_181798.1:c.392A>G , LRG_287t2:c.392A>G	NP_861463.1:p.His131Arg
NM_000218.3:c.773A>G MANE Select	NP_000209.2:p.His258Arg