Canonical Allele Identifier: CA915945571

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 663923
• ClinVar RCV Id: RCV000821899
• dbSNP Id: rs1584846819

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948446delinsGTGTCG , CM000669.2:g.150948446delinsGTGTCG	GRCh38
NC_000007.13:g.150645534delinsGTGTCG , CM000669.1:g.150645534delinsGTGTCG	GRCh37
NC_000007.12:g.150276467delinsGTGTCG	NCBI36
NG_008916.1:g.34481delinsCGACAC , LRG_288:g.34481delinsCGACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3523delinsCGACAC
ENST00000262186.10:c.2690delinsCGACAC MANE Select	ENSP00000262186.5:p.Lys897ThrfsTer?
ENST00000330883.9:c.1670delinsCGACAC	ENSP00000328531.4:p.Lys557ThrfsTer?
ENST00000262186.9:c.2690delinsCGACAC	ENSP00000262186.5:p.Lys897ThrfsTer?
ENST00000330883.8:c.1670delinsCGACAC	ENSP00000328531.4:p.Lys557ThrfsTer?
NM_000238.3:c.2690delinsCGACAC , LRG_288t1:c.2690delinsCGACAC	NP_000229.1:p.Lys897ThrfsTer?
NM_172057.2:c.1670delinsCGACAC , LRG_288t3:c.1670delinsCGACAC	NP_742054.1:p.Lys557ThrfsTer?
XM_011516185.1:c.2390delinsCGACAC	XP_011514487.1:p.Lys797ThrfsTer?
XM_011516186.1:c.2690delinsCGACAC	XP_011514488.1:p.Lys897ThrfsTer?
XM_011516185.2:c.2390delinsCGACAC	XP_011514487.1:p.Lys797ThrfsTer?
XM_011516186.3:c.2690delinsCGACAC	XP_011514488.1:p.Lys897ThrfsTer?
XM_017012195.1:c.2540delinsCGACAC	XP_016867684.1:p.Lys847ThrfsTer?
XM_017012196.1:c.2513delinsCGACAC	XP_016867685.1:p.Lys838ThrfsTer?
NM_000238.4:c.2690delinsCGACAC MANE Select	NP_000229.1:p.Lys897ThrfsTer?
NM_172057.3:c.1670delinsCGACAC	NP_742054.1:p.Lys557ThrfsTer?