Canonical Allele Identifier: CA007247

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53051
• ClinVar RCV Id: RCV000003259
• dbSNP Id: rs397508113
• MyVariant Identifiers: chr11:g.2591880_2591882del (hg19) ; chr11:g.2570650_2570652del (hg38)
• PubMed: PMID:8528244

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570650_2570652del , CM000673.2:g.2570650_2570652del	GRCh38
NC_000011.9:g.2591880_2591882del , CM000673.1:g.2591880_2591882del	GRCh37
NC_000011.8:g.2548456_2548458del	NCBI36
NG_008935.1:g.130660_130662del , LRG_287:g.130660_130662del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.239_241del	ENSP00000434560.2:p.Phe80_Gly81delinsTrp
ENST00000646564.2:c.478-12785_478-12783del	ENSP00000495806.2:n.478-12785_478-12783del
ENST00000155840.12:c.500_502del MANE Select	ENSP00000155840.2:p.Phe167_Gly168delinsTrp
ENST00000335475.6:c.119_121del	ENSP00000334497.5:p.Phe40_Gly41delinsTrp
ENST00000646564.1:c.124-12785_124-12783del	ENSP00000495806.1:n.124-12785_124-12783del
ENST00000155840.9:c.500_502del	ENSP00000155840.2:p.Phe167_Gly168delinsTrp
ENST00000335475.5:c.119_121del	ENSP00000334497.5:p.Phe40_Gly41delinsTrp
ENST00000496887.6:c.239_241del	ENSP00000434560.1:p.Phe80_Gly81delinsTrp
NM_000218.2:c.500_502del , LRG_287t1:c.500_502del	NP_000209.2:p.Phe167_Gly168delinsTrp
NM_181798.1:c.119_121del , LRG_287t2:c.119_121del	NP_861463.1:p.Phe40_Gly41delinsTrp
NM_000218.3:c.500_502del MANE Select	NP_000209.2:p.Phe167_Gly168delinsTrp