Canonical Allele Identifier: CA004880

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3120
• ClinVar RCV Id: RCV000003268 ; RCV000003267 ; RCV000057526 ; RCV000045932 ; RCV000182154 ; RCV000621485 ; RCV003591617
• dbSNP Id: rs12720459
• gnomAD v4: 11-2583535-C-A
• MyVariant Identifiers: chr11:g.2604765C>A (hg19) ; chr11:g.2583535C>A (hg38)
• PubMed: PMID:8528244 ; PMID:10086971 ; PMID:10376919 ; PMID:10973849 ; PMID:12702160 ; PMID:14678125 ; PMID:17470695 ; PMID:17984373 ; PMID:19490272 ; PMID:19716085 ; PMID:19841300 ; PMID:20368164 ; PMID:22581653 ; PMID:22949429 ; PMID:24217263 ; PMID:24861447 ; PMID:25192979

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583535C>A , CM000673.2:g.2583535C>A	GRCh38
NC_000011.9:g.2604765C>A , CM000673.1:g.2604765C>A	GRCh37
NC_000011.8:g.2561341C>A	NCBI36
NG_008935.1:g.143545C>A , LRG_287:g.143545C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.761C>A	ENSP00000434560.2:p.Ala254Glu
ENST00000646564.2:c.578C>A	ENSP00000495806.2:p.Ala193Glu
ENST00000155840.12:c.1022C>A MANE Select	ENSP00000155840.2:p.Ala341Glu
ENST00000335475.6:c.641C>A	ENSP00000334497.5:p.Ala214Glu
ENST00000646564.1:c.224C>A	ENSP00000495806.1:p.Ala75Glu
ENST00000155840.9:c.1022C>A	ENSP00000155840.2:p.Ala341Glu
ENST00000335475.5:c.641C>A	ENSP00000334497.5:p.Ala214Glu
NM_000218.2:c.1022C>A , LRG_287t1:c.1022C>A	NP_000209.2:p.Ala341Glu
NM_181798.1:c.641C>A , LRG_287t2:c.641C>A	NP_861463.1:p.Ala214Glu
NM_000218.3:c.1022C>A MANE Select	NP_000209.2:p.Ala341Glu