Canonical Allele Identifier: CA007311

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67078
• ClinVar RCV Id: RCV001731350 ; RCV001841683
• dbSNP Id: rs199472694
• ExAC: 11:2591894 G / A
• gnomAD v2: 11-2591894-G-A
• gnomAD v3: 11-2570664-G-A
• gnomAD v4: 11-2570664-G-A
• COSMIC: COSM5970131 ; COSM5970132
• MyVariant Identifiers: chr11:g.2591894G>A (hg19) ; chr11:g.2591894_2591905delinsATGGTCCGCCTC (hg19) ; chr11:g.2570664G>A (hg38)
• PubMed: PMID:14678125 ; PMID:19716085 ; PMID:22581653 ; PMID:26077850

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570664G>A , CM000673.2:g.2570664G>A	GRCh38
NC_000011.9:g.2591894G>A , CM000673.1:g.2591894G>A	GRCh37
NC_000011.8:g.2548470G>A	NCBI36
NG_008935.1:g.130674G>A , LRG_287:g.130674G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.253G>A	ENSP00000434560.2:p.Val85Met
ENST00000646564.2:c.478-12771G>A	ENSP00000495806.2:n.478-12771G>A
ENST00000155840.12:c.514G>A MANE Select	ENSP00000155840.2:p.Val172Met
ENST00000335475.6:c.133G>A	ENSP00000334497.5:p.Val45Met
ENST00000646564.1:c.124-12771G>A	ENSP00000495806.1:n.124-12771G>A
ENST00000155840.9:c.514G>A	ENSP00000155840.2:p.Val172Met
ENST00000335475.5:c.133G>A	ENSP00000334497.5:p.Val45Met
ENST00000496887.6:c.253G>A	ENSP00000434560.1:p.Val85Met
NM_000218.2:c.514G>A , LRG_287t1:c.514G>A	NP_000209.2:p.Val172Met
NM_181798.1:c.133G>A , LRG_287t2:c.133G>A	NP_861463.1:p.Val45Met
NM_000218.3:c.514G>A MANE Select	NP_000209.2:p.Val172Met