Canonical Allele Identifier: CA006724

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53031
• ClinVar RCV Id: RCV000057655 ; RCV000415717 ; RCV000415657 ; RCV000620808 ; RCV000627157 ; RCV001579481 ; RCV002477154 ; RCV003155056
• dbSNP Id: rs199472676
• ExAC: 11:2466545 C / A
• gnomAD v2: 11-2466545-C-A
• gnomAD v3: 11-2445315-C-A
• gnomAD v4: 11-2445315-C-A
• MyVariant Identifiers: chr11:g.2466545C>A (hg19) ; chr11:g.2445315C>A (hg38)
• PubMed: PMID:15840476 ; PMID:19716085 ; PMID:19841300 ; PMID:20851114 ; PMID:22581653 ; PMID:22949429 ; PMID:23098067 ; PMID:24606995 ; PMID:24667783 ; PMID:25351510

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445315C>A , CM000673.2:g.2445315C>A	GRCh38
NC_000011.9:g.2466545C>A , CM000673.1:g.2466545C>A	GRCh37
NC_000011.8:g.2423121C>A	NCBI36
NG_008935.1:g.5325C>A , LRG_287:g.5325C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.24-68C>A	ENSP00000434560.2:n.24-68C>A
ENST00000646564.2:c.217C>A	ENSP00000495806.2:p.Pro73Thr
ENST00000155840.12:c.217C>A MANE Select	ENSP00000155840.2:p.Pro73Thr
ENST00000155840.9:c.217C>A	ENSP00000155840.2:p.Pro73Thr
ENST00000496887.6:c.24-68C>A	ENSP00000434560.1:n.24-68C>A
NM_000218.2:c.217C>A , LRG_287t1:c.217C>A	NP_000209.2:p.Pro73Thr
NM_000218.3:c.217C>A MANE Select	NP_000209.2:p.Pro73Thr