Canonical Allele Identifier: CA006159

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 42487
• ClinVar RCV Id: RCV000035343 ; RCV000114749 ; RCV000250643 ; RCV000852643 ; RCV001080143 ; RCV001719723 ; RCV003914916
• dbSNP Id: rs397515877
• ExAC: 11:2466480 A / ACGCGCCCAT
• gnomAD v2: 11-2466480-A-ACGCGCCCAT
• gnomAD v3: 11-2445250-A-ACGCGCCCAT
• gnomAD v4: 11-2445250-A-ACGCGCCCAT
• MyVariant Identifiers: chr11:g.2466488_2466496dupATCGCGCCC (hg19) ; chr11:g.2466496_2466497insATCGCGCCC (hg19) ; chr11:g.2466480_2466481insCGCGCCCAT (hg19) ; chr11:g.2445258_2445266dupATCGCGCCC (hg38) ; chr11:g.2445266_2445267insATCGCGCCC (hg38) ; chr11:g.2445250_2445251insCGCGCCCAT (hg38)
• PubMed: PMID:14661677 ; PMID:15913580 ; PMID:17210839 ; PMID:18752142 ; PMID:19646991 ; PMID:19841300 ; PMID:22818067 ; PMID:22947121 ; PMID:24687331

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445258_2445266dup , CM000673.2:g.2445258_2445266dup	GRCh38
NC_000011.9:g.2466488_2466496dup , CM000673.1:g.2466488_2466496dup	GRCh37
NC_000011.8:g.2423064_2423072dup	NCBI36
NG_008935.1:g.5268_5276dup , LRG_287:g.5268_5276dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.24-125_24-117dup	ENSP00000434560.2:n.24-125_24-117dup
ENST00000646564.2:c.160_168dup	ENSP00000495806.2:p.Pro56_Gly57insIleAlaP...
ENST00000155840.12:c.160_168dup MANE Select	ENSP00000155840.2:p.Pro56_Gly57insIleAlaP...
ENST00000155840.9:c.160_168dup	ENSP00000155840.2:p.Pro56_Gly57insIleAlaP...
ENST00000496887.6:c.24-125_24-117dup	ENSP00000434560.1:n.24-125_24-117dup
NM_000218.2:c.160_168dup , LRG_287t1:c.160_168dup	NP_000209.2:p.Pro56_Gly57insIleAlaPro
NM_000218.3:c.160_168dup MANE Select	NP_000209.2:p.Pro56_Gly57insIleAlaPro