Canonical Allele Identifier: CA2685604163

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950187-GTCGCCCCGCAGGATCTCGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950189_150950207del , CM000669.2:g.150950189_150950207del	GRCh38
NC_000007.13:g.150647277_150647295del , CM000669.1:g.150647277_150647295del	GRCh37
NC_000007.12:g.150278210_150278228del	NCBI36
NG_008916.1:g.32721_32739del , LRG_288:g.32721_32739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1658_1676del
ENST00000684241.1:n.3193_3211del
ENST00000262186.10:c.2360_2378del MANE Select	ENSP00000262186.5:p.Ile787ThrfsTer17
ENST00000330883.9:c.1340_1358del	ENSP00000328531.4:p.Ile447ThrfsTer17
ENST00000262186.9:c.2360_2378del	ENSP00000262186.5:p.Ile787ThrfsTer17
ENST00000330883.8:c.1340_1358del	ENSP00000328531.4:p.Ile447ThrfsTer17
ENST00000430723.4:c.2012_2030del	ENSP00000387657.4:p.Ile671ThrfsTer30
ENST00000461280.1:n.1647_1665del
ENST00000473610.5:n.1992_2010del
ENST00000532957.5:n.2583_2601del
NM_000238.3:c.2360_2378del , LRG_288t1:c.2360_2378del	NP_000229.1:p.Ile787ThrfsTer17
NM_001204798.1:c.1340_1358del	NP_001191727.1:p.Ile447ThrfsTer30
NM_172056.2:c.2360_2378del , LRG_288t2:c.2360_2378del	NP_742053.1:p.Ile787ThrfsTer30
NM_172057.2:c.1340_1358del , LRG_288t3:c.1340_1358del	NP_742054.1:p.Ile447ThrfsTer17
XM_011516185.1:c.2060_2078del	XP_011514487.1:p.Ile687ThrfsTer17
XM_011516186.1:c.2360_2378del	XP_011514488.1:p.Ile787ThrfsTer17
XM_011516185.2:c.2060_2078del	XP_011514487.1:p.Ile687ThrfsTer17
XM_011516186.3:c.2360_2378del	XP_011514488.1:p.Ile787ThrfsTer17
XM_017012195.1:c.2210_2228del	XP_016867684.1:p.Ile737ThrfsTer17
XM_017012196.1:c.2183_2201del	XP_016867685.1:p.Ile728ThrfsTer17
NM_000238.4:c.2360_2378del MANE Select	NP_000229.1:p.Ile787ThrfsTer17
NM_001204798.2:c.1340_1358del	NP_001191727.1:p.Ile447ThrfsTer30
NM_172057.3:c.1340_1358del	NP_742054.1:p.Ile447ThrfsTer17