Canonical Allele Identifier: CA008817

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53141
• ClinVar RCV Id: RCV000057817
• dbSNP Id: rs74462309
• gnomAD v3: 11-2583457-A-T
• gnomAD v4: 11-2583457-A-T
• COSMIC: COSM75090
• MyVariant Identifiers: chr11:g.2604687A>T (hg19) ; chr11:g.2583457A>T (hg38)
• PubMed: PMID:19841300 ; PMID:22581653

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.683A>T	ENSP00000434560.2:p.Tyr228Phe
ENST00000646564.2:c.500A>T	ENSP00000495806.2:p.Tyr167Phe
ENST00000155840.12:c.944A>T MANE Select	ENSP00000155840.2:p.Tyr315Phe
ENST00000335475.6:c.563A>T	ENSP00000334497.5:p.Tyr188Phe
ENST00000646564.1:c.146A>T	ENSP00000495806.1:p.Tyr49Phe
ENST00000155840.9:c.944A>T	ENSP00000155840.2:p.Tyr315Phe
ENST00000335475.5:c.563A>T	ENSP00000334497.5:p.Tyr188Phe
NM_000218.2:c.944A>T , LRG_287t1:c.944A>T	NP_000209.2:p.Tyr315Phe
NM_181798.1:c.563A>T , LRG_287t2:c.563A>T	NP_861463.1:p.Tyr188Phe
NM_000218.3:c.944A>T MANE Select	NP_000209.2:p.Tyr315Phe