Canonical Allele Identifier: CA007290

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53055
• ClinVar RCV Id: RCV000057686 ; RCV003319309
• dbSNP Id: rs199472693
• MyVariant Identifiers: chr11:g.2591886C>G (hg19) ; chr11:g.2570656C>G (hg38)
• PubMed: PMID:19862833 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570656C>G , CM000673.2:g.2570656C>G	GRCh38
NC_000011.9:g.2591886C>G , CM000673.1:g.2591886C>G	GRCh37
NC_000011.8:g.2548462C>G	NCBI36
NG_008935.1:g.130666C>G , LRG_287:g.130666C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.245C>G	ENSP00000434560.2:p.Thr82Arg
ENST00000646564.2:c.478-12779C>G	ENSP00000495806.2:n.478-12779C>G
ENST00000155840.12:c.506C>G MANE Select	ENSP00000155840.2:p.Thr169Arg
ENST00000335475.6:c.125C>G	ENSP00000334497.5:p.Thr42Arg
ENST00000646564.1:c.124-12779C>G	ENSP00000495806.1:n.124-12779C>G
ENST00000155840.9:c.506C>G	ENSP00000155840.2:p.Thr169Arg
ENST00000335475.5:c.125C>G	ENSP00000334497.5:p.Thr42Arg
ENST00000496887.6:c.245C>G	ENSP00000434560.1:p.Thr82Arg
NM_000218.2:c.506C>G , LRG_287t1:c.506C>G	NP_000209.2:p.Thr169Arg
NM_181798.1:c.125C>G , LRG_287t2:c.125C>G	NP_861463.1:p.Thr42Arg
NM_000218.3:c.506C>G MANE Select	NP_000209.2:p.Thr169Arg