Canonical Allele Identifier: CA008807

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53140
• ClinVar RCV Id: RCV000057816 ; RCV000182138 ; RCV000619103 ; RCV000678812 ; RCV000709732
• dbSNP Id: rs74462309
• gnomAD v4: 11-2583457-A-G
• COSMIC: COSM369069
• MyVariant Identifiers: chr11:g.2604687A>G (hg19) ; chr11:g.2583457A>G (hg38)
• PubMed: PMID:9693036 ; PMID:9927399 ; PMID:10220144 ; PMID:10868744 ; PMID:11087258 ; PMID:12702160 ; PMID:12877697 ; PMID:14678125 ; PMID:14760488 ; PMID:15466642 ; PMID:15840476 ; PMID:17470695 ; PMID:18774102 ; PMID:19261104 ; PMID:19716085 ; PMID:20541041 ; PMID:22581653 ; PMID:27920829 ; PMID:28438721

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583457A>G , CM000673.2:g.2583457A>G	GRCh38
NC_000011.9:g.2604687A>G , CM000673.1:g.2604687A>G	GRCh37
NC_000011.8:g.2561263A>G	NCBI36
NG_008935.1:g.143467A>G , LRG_287:g.143467A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.683A>G	ENSP00000434560.2:p.Tyr228Cys
ENST00000646564.2:c.500A>G	ENSP00000495806.2:p.Tyr167Cys
ENST00000155840.12:c.944A>G MANE Select	ENSP00000155840.2:p.Tyr315Cys
ENST00000335475.6:c.563A>G	ENSP00000334497.5:p.Tyr188Cys
ENST00000646564.1:c.146A>G	ENSP00000495806.1:p.Tyr49Cys
ENST00000155840.9:c.944A>G	ENSP00000155840.2:p.Tyr315Cys
ENST00000335475.5:c.563A>G	ENSP00000334497.5:p.Tyr188Cys
NM_000218.2:c.944A>G , LRG_287t1:c.944A>G	NP_000209.2:p.Tyr315Cys
NM_181798.1:c.563A>G , LRG_287t2:c.563A>G	NP_861463.1:p.Tyr188Cys
NM_000218.3:c.944A>G MANE Select	NP_000209.2:p.Tyr315Cys