Canonical Allele Identifier: CA2580615601

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2567545
• ClinVar RCV Id: RCV003311290

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572042_2572048del , CM000673.2:g.2572042_2572048del	GRCh38
NC_000011.9:g.2593272_2593278del , CM000673.1:g.2593272_2593278del	GRCh37
NC_000011.8:g.2549848_2549854del	NCBI36
NG_008935.1:g.132052_132058del , LRG_287:g.132052_132058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.452_458del	ENSP00000434560.2:p.Met151ThrfsTer23
ENST00000646564.2:c.478-11393_478-11387del	ENSP00000495806.2:n.478-11393_478-11387del
ENST00000155840.12:c.713_719del MANE Select	ENSP00000155840.2:p.Met238ThrfsTer23
ENST00000335475.6:c.332_338del	ENSP00000334497.5:p.Met111ThrfsTer23
ENST00000646564.1:c.124-11393_124-11387del	ENSP00000495806.1:n.124-11393_124-11387del
ENST00000155840.9:c.713_719del	ENSP00000155840.2:p.Met238ThrfsTer23
ENST00000335475.5:c.332_338del	ENSP00000334497.5:p.Met111ThrfsTer23
ENST00000496887.6:c.452_458del	ENSP00000434560.1:p.Met151ThrfsTer23
NM_000218.2:c.713_719del , LRG_287t1:c.713_719del	NP_000209.2:p.Met238ThrfsTer23
NM_181798.1:c.332_338del , LRG_287t2:c.332_338del	NP_861463.1:p.Met111ThrfsTer23
NM_000218.3:c.713_719del MANE Select	NP_000209.2:p.Met238ThrfsTer23