Canonical Allele Identifier: CA006810

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53035
• ClinVar RCV Id: RCV000057659 ; RCV000182260 ; RCV002321544 ; RCV002513652
• dbSNP Id: rs199472678
• ExAC: 11:2466660 A / G
• gnomAD v2: 11-2466660-A-G
• gnomAD v4: 11-2445430-A-G
• MyVariant Identifiers: chr11:g.2466660A>G (hg19) ; chr11:g.2445430A>G (hg38)
• PubMed: PMID:10973849 ; PMID:17053194 ; PMID:19114714 ; PMID:19716085 ; PMID:20031635 ; PMID:21129503 ; PMID:22539601 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445430A>G , CM000673.2:g.2445430A>G	GRCh38
NC_000011.9:g.2466660A>G , CM000673.1:g.2466660A>G	GRCh37
NC_000011.8:g.2423236A>G	NCBI36
NG_008935.1:g.5440A>G , LRG_287:g.5440A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.71A>G	ENSP00000434560.2:p.Tyr24Cys
ENST00000646564.2:c.332A>G	ENSP00000495806.2:p.Tyr111Cys
ENST00000155840.12:c.332A>G MANE Select	ENSP00000155840.2:p.Tyr111Cys
ENST00000155840.9:c.332A>G	ENSP00000155840.2:p.Tyr111Cys
ENST00000345015.4:n.109A>G
ENST00000496887.6:c.71A>G	ENSP00000434560.1:p.Tyr24Cys
NM_000218.2:c.332A>G , LRG_287t1:c.332A>G	NP_000209.2:p.Tyr111Cys
NM_000218.3:c.332A>G MANE Select	NP_000209.2:p.Tyr111Cys