Canonical Allele Identifier: CA2580082603

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1709048
• ClinVar RCV Id: RCV002288332

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570664_2570674dup , CM000673.2:g.2570664_2570674dup	GRCh38
NC_000011.9:g.2591894_2591904dup , CM000673.1:g.2591894_2591904dup	GRCh37
NC_000011.8:g.2548470_2548480dup	NCBI36
NG_008935.1:g.130674_130684dup , LRG_287:g.130674_130684dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.253_263dup	ENSP00000434560.2:p.Gly92SerfsTer?
ENST00000646564.2:c.478-12771_478-12761dup	ENSP00000495806.2:n.478-12771_478-12761dup
ENST00000155840.12:c.514_524dup MANE Select	ENSP00000155840.2:p.Gly179SerfsTer?
ENST00000335475.6:c.133_143dup	ENSP00000334497.5:p.Gly52SerfsTer?
ENST00000646564.1:c.124-12771_124-12761dup	ENSP00000495806.1:n.124-12771_124-12761dup
ENST00000155840.9:c.514_524dup	ENSP00000155840.2:p.Gly179SerfsTer?
ENST00000335475.5:c.133_143dup	ENSP00000334497.5:p.Gly52SerfsTer?
ENST00000496887.6:c.253_263dup	ENSP00000434560.1:p.Gly92SerfsTer?
NM_000218.2:c.514_524dup , LRG_287t1:c.514_524dup	NP_000209.2:p.Gly179SerfsTer?
NM_181798.1:c.133_143dup , LRG_287t2:c.133_143dup	NP_861463.1:p.Gly52SerfsTer?
NM_000218.3:c.514_524dup MANE Select	NP_000209.2:p.Gly179SerfsTer?