Canonical Allele Identifier: CA2580615600

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2575073
• ClinVar RCV Id: RCV003319970

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570734_2570800del , CM000673.2:g.2570734_2570800del	GRCh38
NC_000011.9:g.2591964_2592030del , CM000673.1:g.2591964_2592030del	GRCh37
NC_000011.8:g.2548540_2548606del	NCBI36
NG_008935.1:g.130744_130810del , LRG_287:g.130744_130810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.323_343+46del
ENST00000646564.2:c.478-12701_478-12635del	ENSP00000495806.2:n.478-12701_478-12635del
ENST00000155840.12:c.584_604+46del
ENST00000335475.6:c.203_223+46del
ENST00000646564.1:c.124-12701_124-12635del	ENSP00000495806.1:n.124-12701_124-12635del
ENST00000155840.9:c.584_604+46del
ENST00000335475.5:c.203_223+46del
ENST00000496887.6:c.323_343+46del
NM_000218.2:c.584_604+46del , LRG_287t1:c.584_604+46del
NM_181798.1:c.203_223+46del , LRG_287t2:c.203_223+46del
NM_000218.3:c.584_604+46del