Canonical Allele Identifier: CA2685604339

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150955727-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955727_150955728insT , CM000669.2:g.150955727_150955728insT	GRCh38
NC_000007.13:g.150652815_150652816insT , CM000669.1:g.150652815_150652816insT	GRCh37
NC_000007.12:g.150283748_150283749insT	NCBI36
NG_008916.1:g.27199_27200insA , LRG_288:g.27199_27200insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.94_95insA
ENST00000684241.1:n.1961+1563_1961+1564insA
ENST00000262186.10:c.1128+1563_1128+1564insA MANE Select	ENSP00000262186.5:n.1128+1563_1128+1564insA
ENST00000330883.9:c.-225_-224insA	ENSP00000328531.4:n.-225_-224insA
ENST00000262186.9:c.1128+1563_1128+1564insA	ENSP00000262186.5:n.1128+1563_1128+1564insA
ENST00000330883.8:c.-225_-224insA	ENSP00000328531.4:n.-225_-224insA
ENST00000430723.4:c.780+1563_780+1564insA	ENSP00000387657.4:n.780+1563_780+1564insA
ENST00000461280.1:n.83_84insA
ENST00000473610.5:n.101_102insA
ENST00000532957.5:n.1351+1563_1351+1564insA
NM_000238.3:c.1128+1563_1128+1564insA , LRG_288t1:c.1128+1563_1128+1564insA	NP_000229.1:n.1128+1563_1128+1564insA
NM_001204798.1:c.-225_-224insA	NP_001191727.1:n.-225_-224insA
NM_172056.2:c.1128+1563_1128+1564insA , LRG_288t2:c.1128+1563_1128+1564insA	NP_742053.1:n.1128+1563_1128+1564insA
NM_172057.2:c.-225_-224insA , LRG_288t3:c.-225_-224insA	NP_742054.1:n.-225_-224insA
XM_011516185.1:c.828+1563_828+1564insA	XP_011514487.1:n.828+1563_828+1564insA
XM_011516186.1:c.1128+1563_1128+1564insA	XP_011514488.1:n.1128+1563_1128+1564insA
XM_011516185.2:c.828+1563_828+1564insA	XP_011514487.1:n.828+1563_828+1564insA
XM_011516186.3:c.1128+1563_1128+1564insA	XP_011514488.1:n.1128+1563_1128+1564insA
XM_017012195.1:c.978+1563_978+1564insA	XP_016867684.1:n.978+1563_978+1564insA
XM_017012196.1:c.951+1563_951+1564insA	XP_016867685.1:n.951+1563_951+1564insA
NM_000238.4:c.1128+1563_1128+1564insA MANE Select	NP_000229.1:n.1128+1563_1128+1564insA
NM_001204798.2:c.-225_-224insA	NP_001191727.1:n.-225_-224insA
NM_172057.3:c.-225_-224insA	NP_742054.1:n.-225_-224insA