Canonical Allele Identifier: CA006800

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53034
• ClinVar RCV Id: RCV000046047 ; RCV000057658 ; RCV000182259 ; RCV004018947
• dbSNP Id: rs199472677
• ExAC: 11:2466656 G / A
• gnomAD v2: 11-2466656-G-A
• gnomAD v3: 11-2445426-G-A
• gnomAD v4: 11-2445426-G-A
• MyVariant Identifiers: chr11:g.2466656G>A (hg19) ; chr11:g.2445426G>A (hg38)
• PubMed: PMID:14661677 ; PMID:19841300 ; PMID:21164565 ; PMID:22581653 ; PMID:22949429 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445426G>A , CM000673.2:g.2445426G>A	GRCh38
NC_000011.9:g.2466656G>A , CM000673.1:g.2466656G>A	GRCh37
NC_000011.8:g.2423232G>A	NCBI36
NG_008935.1:g.5436G>A , LRG_287:g.5436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.67G>A	ENSP00000434560.2:p.Val23Ile
ENST00000646564.2:c.328G>A	ENSP00000495806.2:p.Val110Ile
ENST00000155840.12:c.328G>A MANE Select	ENSP00000155840.2:p.Val110Ile
ENST00000155840.9:c.328G>A	ENSP00000155840.2:p.Val110Ile
ENST00000345015.4:n.105G>A
ENST00000496887.6:c.67G>A	ENSP00000434560.1:p.Val23Ile
NM_000218.2:c.328G>A , LRG_287t1:c.328G>A	NP_000209.2:p.Val110Ile
NM_000218.3:c.328G>A MANE Select	NP_000209.2:p.Val110Ile