Canonical Allele Identifier: CA007777

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 37255
• ClinVar RCV Id: RCV000030815 ; RCV000057723 ; RCV000119056 ; RCV000148547 ; RCV000252730
• dbSNP Id: rs151344631
• ExAC: 11:2592563 G / A
• gnomAD v2: 11-2592563-G-A
• gnomAD v3: 11-2571333-G-A
• gnomAD v4: 11-2571333-G-A
• MyVariant Identifiers: chr11:g.2592563G>A (hg19) ; chr11:g.2571333G>A (hg38)
• PubMed: PMID:18580685 ; PMID:20421371 ; PMID:22378279 ; PMID:22581653 ; PMID:23844633 ; PMID:25444851 ; PMID:25525159 ; PMID:28264985

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571333G>A , CM000673.2:g.2571333G>A	GRCh38
NC_000011.9:g.2592563G>A , CM000673.1:g.2592563G>A	GRCh37
NC_000011.8:g.2549139G>A	NCBI36
NG_008935.1:g.131343G>A , LRG_287:g.131343G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.352G>A	ENSP00000434560.2:p.Val118Met
ENST00000646564.2:c.478-12102G>A	ENSP00000495806.2:n.478-12102G>A
ENST00000155840.12:c.613G>A MANE Select	ENSP00000155840.2:p.Val205Met
ENST00000335475.6:c.232G>A	ENSP00000334497.5:p.Val78Met
ENST00000646564.1:c.124-12102G>A	ENSP00000495806.1:n.124-12102G>A
ENST00000155840.9:c.613G>A	ENSP00000155840.2:p.Val205Met
ENST00000335475.5:c.232G>A	ENSP00000334497.5:p.Val78Met
ENST00000496887.6:c.352G>A	ENSP00000434560.1:p.Val118Met
NM_000218.2:c.613G>A , LRG_287t1:c.613G>A	NP_000209.2:p.Val205Met
NM_181798.1:c.232G>A , LRG_287t2:c.232G>A	NP_861463.1:p.Val78Met
NM_000218.3:c.613G>A MANE Select	NP_000209.2:p.Val205Met