Canonical Allele Identifier: CA2685604348

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150955730-ATGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955731_150955733del , CM000669.2:g.150955731_150955733del	GRCh38
NC_000007.13:g.150652819_150652821del , CM000669.1:g.150652819_150652821del	GRCh37
NC_000007.12:g.150283752_150283754del	NCBI36
NG_008916.1:g.27194_27196del , LRG_288:g.27194_27196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.89_91del
ENST00000684241.1:n.1961+1558_1961+1560del
ENST00000262186.10:c.1128+1558_1128+1560del MANE Select	ENSP00000262186.5:n.1128+1558_1128+1560del
ENST00000330883.9:c.-230_-228del	ENSP00000328531.4:n.-230_-228del
ENST00000262186.9:c.1128+1558_1128+1560del	ENSP00000262186.5:n.1128+1558_1128+1560del
ENST00000330883.8:c.-230_-228del	ENSP00000328531.4:n.-230_-228del
ENST00000430723.4:c.780+1558_780+1560del	ENSP00000387657.4:n.780+1558_780+1560del
ENST00000461280.1:n.78_80del
ENST00000473610.5:n.96_98del
ENST00000532957.5:n.1351+1558_1351+1560del
NM_000238.3:c.1128+1558_1128+1560del , LRG_288t1:c.1128+1558_1128+1560del	NP_000229.1:n.1128+1558_1128+1560del
NM_001204798.1:c.-230_-228del	NP_001191727.1:n.-230_-228del
NM_172056.2:c.1128+1558_1128+1560del , LRG_288t2:c.1128+1558_1128+1560del	NP_742053.1:n.1128+1558_1128+1560del
NM_172057.2:c.-230_-228del , LRG_288t3:c.-230_-228del	NP_742054.1:n.-230_-228del
XM_011516185.1:c.828+1558_828+1560del	XP_011514487.1:n.828+1558_828+1560del
XM_011516186.1:c.1128+1558_1128+1560del	XP_011514488.1:n.1128+1558_1128+1560del
XM_011516185.2:c.828+1558_828+1560del	XP_011514487.1:n.828+1558_828+1560del
XM_011516186.3:c.1128+1558_1128+1560del	XP_011514488.1:n.1128+1558_1128+1560del
XM_017012195.1:c.978+1558_978+1560del	XP_016867684.1:n.978+1558_978+1560del
XM_017012196.1:c.951+1558_951+1560del	XP_016867685.1:n.951+1558_951+1560del
NM_000238.4:c.1128+1558_1128+1560del MANE Select	NP_000229.1:n.1128+1558_1128+1560del
NM_001204798.2:c.-230_-228del	NP_001191727.1:n.-230_-228del
NM_172057.3:c.-230_-228del	NP_742054.1:n.-230_-228del