Canonical Allele Identifier: CA2685603651

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150955497-C-CCGCCATGGAGGACTTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955499_150955515dup , CM000669.2:g.150955499_150955515dup	GRCh38
NC_000007.13:g.150652587_150652603dup , CM000669.1:g.150652587_150652603dup	GRCh37
NC_000007.12:g.150283520_150283536dup	NCBI36
NG_008916.1:g.27413_27429dup , LRG_288:g.27413_27429dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.308_324dup
ENST00000684241.1:n.1961+1777_1961+1793dup
ENST00000262186.10:c.1128+1777_1128+1793dup MANE Select	ENSP00000262186.5:n.1128+1777_1128+1793dup
ENST00000330883.9:c.-11_6dup	ENSP00000328531.4:p.Ala3ProfsTer27
ENST00000262186.9:c.1128+1777_1128+1793dup	ENSP00000262186.5:n.1128+1777_1128+1793dup
ENST00000330883.8:c.-11_6dup	ENSP00000328531.4:p.Ala3ProfsTer27
ENST00000430723.4:c.780+1777_780+1793dup	ENSP00000387657.4:n.780+1777_780+1793dup
ENST00000461280.1:n.297_313dup
ENST00000473610.5:n.315_331dup
ENST00000532957.5:n.1351+1777_1351+1793dup
NM_000238.3:c.1128+1777_1128+1793dup , LRG_288t1:c.1128+1777_1128+1793dup	NP_000229.1:n.1128+1777_1128+1793dup
NM_001204798.1:c.-11_6dup	NP_001191727.1:p.Ala3ProfsTer27
NM_172056.2:c.1128+1777_1128+1793dup , LRG_288t2:c.1128+1777_1128+1793dup	NP_742053.1:n.1128+1777_1128+1793dup
NM_172057.2:c.-11_6dup , LRG_288t3:c.-11_6dup	NP_742054.1:p.Ala3ProfsTer27
XM_011516185.1:c.828+1777_828+1793dup	XP_011514487.1:n.828+1777_828+1793dup
XM_011516186.1:c.1128+1777_1128+1793dup	XP_011514488.1:n.1128+1777_1128+1793dup
XM_011516185.2:c.828+1777_828+1793dup	XP_011514487.1:n.828+1777_828+1793dup
XM_011516186.3:c.1128+1777_1128+1793dup	XP_011514488.1:n.1128+1777_1128+1793dup
XM_017012195.1:c.978+1777_978+1793dup	XP_016867684.1:n.978+1777_978+1793dup
XM_017012196.1:c.951+1777_951+1793dup	XP_016867685.1:n.951+1777_951+1793dup
NM_000238.4:c.1128+1777_1128+1793dup MANE Select	NP_000229.1:n.1128+1777_1128+1793dup
NM_001204798.2:c.-11_6dup	NP_001191727.1:p.Ala3ProfsTer27
NM_172057.3:c.-11_6dup	NP_742054.1:p.Ala3ProfsTer27