Canonical Allele Identifier: CA891842886

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 570494
• ClinVar RCV Id: RCV000691355
• dbSNP Id: rs1563156461

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951499_150951509delinsCTTCA , CM000669.2:g.150951499_150951509delinsCTTCA	GRCh38
NC_000007.13:g.150648587_150648597delinsCTTCA , CM000669.1:g.150648587_150648597delinsCTTCA	GRCh37
NC_000007.12:g.150279520_150279530delinsCTTCA	NCBI36
NG_008916.1:g.31418_31428delinsTGAAG , LRG_288:g.31418_31428delinsTGAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1182_1192delinsTGAAG
ENST00000683359.1:n.8_18delinsTGAAG
ENST00000684241.1:n.2717_2727delinsTGAAG
ENST00000262186.10:c.1884_1894delinsTGAAG MANE Select	ENSP00000262186.5:p.Asn629_Pro632delinsGl...
ENST00000330883.9:c.864_874delinsTGAAG	ENSP00000328531.4:p.Asn289_Pro292delinsGl...
ENST00000262186.9:c.1884_1894delinsTGAAG	ENSP00000262186.5:p.Asn629_Pro632delinsGl...
ENST00000330883.8:c.864_874delinsTGAAG	ENSP00000328531.4:p.Asn289_Pro292delinsGl...
ENST00000430723.4:c.1536_1546delinsTGAAG	ENSP00000387657.4:p.Asn513_Pro516delinsGl...
ENST00000461280.1:n.1171_1181delinsTGAAG
ENST00000473610.5:n.1189_1199delinsTGAAG
ENST00000532957.5:n.2107_2117delinsTGAAG
NM_000238.3:c.1884_1894delinsTGAAG , LRG_288t1:c.1884_1894delinsTGAAG	NP_000229.1:p.Asn629_Pro632delinsGluAla
NM_001204798.1:c.864_874delinsTGAAG	NP_001191727.1:p.Asn289_Pro292delinsGluAl...
NM_172056.2:c.1884_1894delinsTGAAG , LRG_288t2:c.1884_1894delinsTGAAG	NP_742053.1:p.Asn629_Pro632delinsGluAla
NM_172057.2:c.864_874delinsTGAAG , LRG_288t3:c.864_874delinsTGAAG	NP_742054.1:p.Asn289_Pro292delinsGluAla
XM_011516185.1:c.1584_1594delinsTGAAG	XP_011514487.1:p.Asn529_Pro532delinsGluAl...
XM_011516186.1:c.1884_1894delinsTGAAG	XP_011514488.1:p.Asn629_Pro632delinsGluAl...
XM_011516185.2:c.1584_1594delinsTGAAG	XP_011514487.1:p.Asn529_Pro532delinsGluAl...
XM_011516186.3:c.1884_1894delinsTGAAG	XP_011514488.1:p.Asn629_Pro632delinsGluAl...
XM_017012195.1:c.1734_1744delinsTGAAG	XP_016867684.1:p.Asn579_Pro582delinsGluAl...
XM_017012196.1:c.1707_1717delinsTGAAG	XP_016867685.1:p.Asn570_Pro573delinsGluAl...
NM_000238.4:c.1884_1894delinsTGAAG MANE Select	NP_000229.1:p.Asn629_Pro632delinsGluAla
NM_001204798.2:c.864_874delinsTGAAG	NP_001191727.1:p.Asn289_Pro292delinsGluAl...
NM_172057.3:c.864_874delinsTGAAG	NP_742054.1:p.Asn289_Pro292delinsGluAla