Canonical Allele Identifier: CA2499220873

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1076090
• ClinVar RCV Id: RCV001389871
• dbSNP Id: rs2133758295

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587623del , CM000673.2:g.2587623del	GRCh38
NC_000011.9:g.2608853del , CM000673.1:g.2608853del	GRCh37
NC_000011.8:g.2565429del	NCBI36
NG_008935.1:g.147633del , LRG_287:g.147633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.825del	ENSP00000434560.2:p.Tyr276ThrfsTer24
ENST00000646564.2:c.642del	ENSP00000495806.2:p.Tyr215ThrfsTer24
ENST00000155840.12:c.1182del MANE Select	ENSP00000155840.2:p.Tyr395ThrfsTer24
ENST00000335475.6:c.801del	ENSP00000334497.5:p.Tyr268ThrfsTer24
ENST00000646564.1:c.288del	ENSP00000495806.1:p.Tyr97ThrfsTer24
ENST00000155840.9:c.1182del	ENSP00000155840.2:p.Tyr395ThrfsTer24
ENST00000335475.5:c.801del	ENSP00000334497.5:p.Tyr268ThrfsTer24
NM_000218.2:c.1182del , LRG_287t1:c.1182del	NP_000209.2:p.Tyr395ThrfsTer24
NM_181798.1:c.801del , LRG_287t2:c.801del	NP_861463.1:p.Tyr268ThrfsTer24
NM_000218.3:c.1182del MANE Select	NP_000209.2:p.Tyr395ThrfsTer24