Canonical Allele Identifier: CA005053

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52940
• ClinVar RCV Id: RCV000045943 ; RCV000057535
• dbSNP Id: rs199473471
• MyVariant Identifiers: chr11:g.2606442G>C (hg19) ; chr11:g.2585212G>C (hg38)
• PubMed: PMID:9272155 ; PMID:10220144 ; PMID:14678125 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585212G>C , CM000673.2:g.2585212G>C	GRCh38
NC_000011.9:g.2606442G>C , CM000673.1:g.2606442G>C	GRCh37
NC_000011.8:g.2563018G>C	NCBI36
NG_008935.1:g.145222G>C , LRG_287:g.145222G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1667G>C	ENSP00000434560.2:n.771+1667G>C
ENST00000646564.2:c.588+1667G>C	ENSP00000495806.2:n.588+1667G>C
ENST00000155840.12:c.1033G>C MANE Select	ENSP00000155840.2:p.Gly345Arg
ENST00000335475.6:c.652G>C	ENSP00000334497.5:p.Gly218Arg
ENST00000646564.1:c.234+1667G>C	ENSP00000495806.1:n.234+1667G>C
ENST00000155840.9:c.1033G>C	ENSP00000155840.2:p.Gly345Arg
ENST00000335475.5:c.652G>C	ENSP00000334497.5:p.Gly218Arg
NM_000218.2:c.1033G>C , LRG_287t1:c.1033G>C	NP_000209.2:p.Gly345Arg
NM_181798.1:c.652G>C , LRG_287t2:c.652G>C	NP_861463.1:p.Gly218Arg
NM_000218.3:c.1033G>C MANE Select	NP_000209.2:p.Gly345Arg