Canonical Allele Identifier: CA008122

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3118
• ClinVar RCV Id: RCV000003265 ; RCV000057749 ; RCV000182109 ; RCV000190212 ; RCV000619506
• dbSNP Id: rs120074179
• gnomAD v4: 11-2572089-G-A
• COSMIC: COSM5999423 ; COSM5999424
• MyVariant Identifiers: chr11:g.2593319G>A (hg19) ; chr11:g.2572089G>A (hg38)
• PubMed: PMID:8528244 ; PMID:9386136 ; PMID:10376919 ; PMID:10973849 ; PMID:12820704 ; PMID:14678125 ; PMID:14756674 ; PMID:15234419 ; PMID:15466642 ; PMID:15840476 ; PMID:16937190 ; PMID:17470695 ; PMID:19716085 ; PMID:19841300 ; PMID:22456477 ; PMID:22581653 ; PMID:22949429 ; PMID:23124029 ; PMID:26132555 ; PMID:26318259 ; PMID:27041096 ; PMID:28012188

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572089G>A , CM000673.2:g.2572089G>A	GRCh38
NC_000011.9:g.2593319G>A , CM000673.1:g.2593319G>A	GRCh37
NC_000011.8:g.2549895G>A	NCBI36
NG_008935.1:g.132099G>A , LRG_287:g.132099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.499G>A	ENSP00000434560.2:p.Val167Met
ENST00000646564.2:c.478-11346G>A	ENSP00000495806.2:n.478-11346G>A
ENST00000155840.12:c.760G>A MANE Select	ENSP00000155840.2:p.Val254Met
ENST00000335475.6:c.379G>A	ENSP00000334497.5:p.Val127Met
ENST00000646564.1:c.124-11346G>A	ENSP00000495806.1:n.124-11346G>A
ENST00000155840.9:c.760G>A	ENSP00000155840.2:p.Val254Met
ENST00000335475.5:c.379G>A	ENSP00000334497.5:p.Val127Met
ENST00000496887.6:c.499G>A	ENSP00000434560.1:p.Val167Met
NM_000218.2:c.760G>A , LRG_287t1:c.760G>A	NP_000209.2:p.Val254Met
NM_181798.1:c.379G>A , LRG_287t2:c.379G>A	NP_861463.1:p.Val127Met
NM_000218.3:c.760G>A MANE Select	NP_000209.2:p.Val254Met