Canonical Allele Identifier: CA658797048

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 519255
• ClinVar RCV Id: RCV000620812
• dbSNP Id: rs1554427697

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958167_150958170delinsACT , CM000669.2:g.150958167_150958170delinsACT	GRCh38
NC_000007.13:g.150655255_150655258delinsACT , CM000669.1:g.150655255_150655258delinsACT	GRCh37
NC_000007.12:g.150286188_150286191delinsACT	NCBI36
NG_008916.1:g.24757_24760delinsAGT , LRG_288:g.24757_24760delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1638_1641delinsAGT
ENST00000262186.10:c.805_808delinsAGT MANE Select	ENSP00000262186.5:p.Arg269SerfsTer?
ENST00000262186.9:c.805_808delinsAGT	ENSP00000262186.5:p.Arg269SerfsTer?
ENST00000430723.4:c.457_460delinsAGT	ENSP00000387657.4:p.Arg153SerfsTer?
ENST00000532957.5:n.1028_1031delinsAGT
NM_000238.3:c.805_808delinsAGT , LRG_288t1:c.805_808delinsAGT	NP_000229.1:p.Arg269SerfsTer?
NM_172056.2:c.805_808delinsAGT , LRG_288t2:c.805_808delinsAGT	NP_742053.1:p.Arg269SerfsTer?
XM_011516185.1:c.505_508delinsAGT	XP_011514487.1:p.Arg169SerfsTer?
XM_011516186.1:c.805_808delinsAGT	XP_011514488.1:p.Arg269SerfsTer?
XM_011516185.2:c.505_508delinsAGT	XP_011514487.1:p.Arg169SerfsTer?
XM_011516186.3:c.805_808delinsAGT	XP_011514488.1:p.Arg269SerfsTer?
XM_017012195.1:c.655_658delinsAGT	XP_016867684.1:p.Arg219SerfsTer?
XM_017012196.1:c.628_631delinsAGT	XP_016867685.1:p.Arg210SerfsTer?
NM_000238.4:c.805_808delinsAGT MANE Select	NP_000229.1:p.Arg269SerfsTer?