Canonical Allele Identifier: CA2605591225

Gene: KCNH2

Linked Data

• gnomAD v3: 7-150950190-GCCCC-G
• gnomAD v4: 7-150950190-GCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950191_150950194del , CM000669.2:g.150950191_150950194del	GRCh38
NC_000007.13:g.150647279_150647282del , CM000669.1:g.150647279_150647282del	GRCh37
NC_000007.12:g.150278212_150278215del	NCBI36
NG_008916.1:g.32733_32736del , LRG_288:g.32733_32736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1670_1673del
ENST00000684241.1:n.3205_3208del
ENST00000262186.10:c.2372_2375del MANE Select	ENSP00000262186.5:p.Arg791ProfsTer18
ENST00000330883.9:c.1352_1355del	ENSP00000328531.4:p.Arg451ProfsTer18
ENST00000262186.9:c.2372_2375del	ENSP00000262186.5:p.Arg791ProfsTer18
ENST00000330883.8:c.1352_1355del	ENSP00000328531.4:p.Arg451ProfsTer18
ENST00000430723.4:c.2024_2027del	ENSP00000387657.4:p.Arg675ProfsTer?
ENST00000461280.1:n.1659_1662del
ENST00000473610.5:n.2004_2007del
ENST00000532957.5:n.2595_2598del
NM_000238.3:c.2372_2375del , LRG_288t1:c.2372_2375del	NP_000229.1:p.Arg791ProfsTer18
NM_001204798.1:c.1352_1355del	NP_001191727.1:p.Arg451ProfsTer?
NM_172056.2:c.2372_2375del , LRG_288t2:c.2372_2375del	NP_742053.1:p.Arg791ProfsTer?
NM_172057.2:c.1352_1355del , LRG_288t3:c.1352_1355del	NP_742054.1:p.Arg451ProfsTer18
XM_011516185.1:c.2072_2075del	XP_011514487.1:p.Arg691ProfsTer18
XM_011516186.1:c.2372_2375del	XP_011514488.1:p.Arg791ProfsTer18
XM_011516185.2:c.2072_2075del	XP_011514487.1:p.Arg691ProfsTer18
XM_011516186.3:c.2372_2375del	XP_011514488.1:p.Arg791ProfsTer18
XM_017012195.1:c.2222_2225del	XP_016867684.1:p.Arg741ProfsTer18
XM_017012196.1:c.2195_2198del	XP_016867685.1:p.Arg732ProfsTer18
NM_000238.4:c.2372_2375del MANE Select	NP_000229.1:p.Arg791ProfsTer18
NM_001204798.2:c.1352_1355del	NP_001191727.1:p.Arg451ProfsTer?
NM_172057.3:c.1352_1355del	NP_742054.1:p.Arg451ProfsTer18