Canonical Allele Identifier: CA005370

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67013
• ClinVar RCV Id: RCV000057559 ; RCV000462343 ; RCV000505766
• dbSNP Id: rs199472768
• MyVariant Identifiers: chr11:g.2608806T>C (hg19) ; chr11:g.2587576T>C (hg38)
• PubMed: PMID:17222736 ; PMID:22581653 ; PMID:22677073

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587576T>C , CM000673.2:g.2587576T>C	GRCh38
NC_000011.9:g.2608806T>C , CM000673.1:g.2608806T>C	GRCh37
NC_000011.8:g.2565382T>C	NCBI36
NG_008935.1:g.147586T>C , LRG_287:g.147586T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.778T>C	ENSP00000434560.2:p.Trp260Arg
ENST00000646564.2:c.595T>C	ENSP00000495806.2:p.Trp199Arg
ENST00000155840.12:c.1135T>C MANE Select	ENSP00000155840.2:p.Trp379Arg
ENST00000335475.6:c.754T>C	ENSP00000334497.5:p.Trp252Arg
ENST00000646564.1:c.241T>C	ENSP00000495806.1:p.Trp81Arg
ENST00000155840.9:c.1135T>C	ENSP00000155840.2:p.Trp379Arg
ENST00000335475.5:c.754T>C	ENSP00000334497.5:p.Trp252Arg
NM_000218.2:c.1135T>C , LRG_287t1:c.1135T>C	NP_000209.2:p.Trp379Arg
NM_181798.1:c.754T>C , LRG_287t2:c.754T>C	NP_861463.1:p.Trp252Arg
NM_000218.3:c.1135T>C MANE Select	NP_000209.2:p.Trp379Arg