Canonical Allele Identifier: CA10588516

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 265209
• ClinVar RCV Id: RCV000477871 ; RCV000617940 ; RCV000814153 ; RCV003591726
• dbSNP Id: rs139042529
• gnomAD v4: 11-2570663-C-A
• MyVariant Identifiers: chr11:g.2591893C>A (hg19) ; chr11:g.2570663C>A (hg38)
• PubMed: PMID:11216980 ; PMID:12051962 ; PMID:14678125 ; PMID:15840476 ; PMID:19716085 ; PMID:26187847

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570663C>A , CM000673.2:g.2570663C>A	GRCh38
NC_000011.9:g.2591893C>A , CM000673.1:g.2591893C>A	GRCh37
NC_000011.8:g.2548469C>A	NCBI36
NG_008935.1:g.130673C>A , LRG_287:g.130673C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.252C>A	ENSP00000434560.2:p.Tyr84Ter
ENST00000646564.2:c.478-12772C>A	ENSP00000495806.2:n.478-12772C>A
ENST00000155840.12:c.513C>A MANE Select	ENSP00000155840.2:p.Tyr171Ter
ENST00000335475.6:c.132C>A	ENSP00000334497.5:p.Tyr44Ter
ENST00000646564.1:c.124-12772C>A	ENSP00000495806.1:n.124-12772C>A
ENST00000155840.9:c.513C>A	ENSP00000155840.2:p.Tyr171Ter
ENST00000335475.5:c.132C>A	ENSP00000334497.5:p.Tyr44Ter
ENST00000496887.6:c.252C>A	ENSP00000434560.1:p.Tyr84Ter
NM_000218.2:c.513C>A , LRG_287t1:c.513C>A	NP_000209.2:p.Tyr171Ter
NM_181798.1:c.132C>A , LRG_287t2:c.132C>A	NP_861463.1:p.Tyr44Ter
NM_000218.3:c.513C>A MANE Select	NP_000209.2:p.Tyr171Ter