Canonical Allele Identifier: CA2685600494

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948476-C-CGCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948479_150948482dup , CM000669.2:g.150948479_150948482dup	GRCh38
NC_000007.13:g.150645567_150645570dup , CM000669.1:g.150645567_150645570dup	GRCh37
NC_000007.12:g.150276500_150276503dup	NCBI36
NG_008916.1:g.34447_34450dup , LRG_288:g.34447_34450dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3489_3492dup
ENST00000262186.10:c.2656_2659dup MANE Select	ENSP00000262186.5:p.Arg887GlnfsTer?
ENST00000330883.9:c.1636_1639dup	ENSP00000328531.4:p.Arg547GlnfsTer?
ENST00000262186.9:c.2656_2659dup	ENSP00000262186.5:p.Arg887GlnfsTer?
ENST00000330883.8:c.1636_1639dup	ENSP00000328531.4:p.Arg547GlnfsTer?
NM_000238.3:c.2656_2659dup , LRG_288t1:c.2656_2659dup	NP_000229.1:p.Arg887GlnfsTer?
NM_172057.2:c.1636_1639dup , LRG_288t3:c.1636_1639dup	NP_742054.1:p.Arg547GlnfsTer?
XM_011516185.1:c.2356_2359dup	XP_011514487.1:p.Arg787GlnfsTer?
XM_011516186.1:c.2656_2659dup	XP_011514488.1:p.Arg887GlnfsTer?
XM_011516185.2:c.2356_2359dup	XP_011514487.1:p.Arg787GlnfsTer?
XM_011516186.3:c.2656_2659dup	XP_011514488.1:p.Arg887GlnfsTer?
XM_017012195.1:c.2506_2509dup	XP_016867684.1:p.Arg837GlnfsTer?
XM_017012196.1:c.2479_2482dup	XP_016867685.1:p.Arg828GlnfsTer?
NM_000238.4:c.2656_2659dup MANE Select	NP_000229.1:p.Arg887GlnfsTer?
NM_172057.3:c.1636_1639dup	NP_742054.1:p.Arg547GlnfsTer?