Canonical Allele Identifier: CA10587720

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 263738
• ClinVar RCV Id: RCV000253252 ; RCV001859449 ; RCV002464154 ; RCV003326392
• dbSNP Id: rs530612385
• gnomAD v4: 11-2570714-G-A
• MyVariant Identifiers: chr11:g.2591944G>A (hg19) ; chr11:g.2570714G>A (hg38)
• PubMed: PMID:19716085

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570714G>A , CM000673.2:g.2570714G>A	GRCh38
NC_000011.9:g.2591944G>A , CM000673.1:g.2591944G>A	GRCh37
NC_000011.8:g.2548520G>A	NCBI36
NG_008935.1:g.130724G>A , LRG_287:g.130724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.303G>A	ENSP00000434560.2:p.Trp101Ter
ENST00000646564.2:c.478-12721G>A	ENSP00000495806.2:n.478-12721G>A
ENST00000155840.12:c.564G>A MANE Select	ENSP00000155840.2:p.Trp188Ter
ENST00000335475.6:c.183G>A	ENSP00000334497.5:p.Trp61Ter
ENST00000646564.1:c.124-12721G>A	ENSP00000495806.1:n.124-12721G>A
ENST00000155840.9:c.564G>A	ENSP00000155840.2:p.Trp188Ter
ENST00000335475.5:c.183G>A	ENSP00000334497.5:p.Trp61Ter
ENST00000496887.6:c.303G>A	ENSP00000434560.1:p.Trp101Ter
NM_000218.2:c.564G>A , LRG_287t1:c.564G>A	NP_000209.2:p.Trp188Ter
NM_181798.1:c.183G>A , LRG_287t2:c.183G>A	NP_861463.1:p.Trp61Ter
NM_000218.3:c.564G>A MANE Select	NP_000209.2:p.Trp188Ter