Canonical Allele Identifier: CA2685607721

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958214-T-TGCGCCCGGGGCGATGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958217_150958234dup , CM000669.2:g.150958217_150958234dup	GRCh38
NC_000007.13:g.150655305_150655322dup , CM000669.1:g.150655305_150655322dup	GRCh37
NC_000007.12:g.150286238_150286255dup	NCBI36
NG_008916.1:g.24695_24712dup , LRG_288:g.24695_24712dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1576_1593dup
ENST00000262186.10:c.743_760dup MANE Select	ENSP00000262186.5:p.Ala253_His254insLeuPr...
ENST00000262186.9:c.743_760dup	ENSP00000262186.5:p.Ala253_His254insLeuPr...
ENST00000430723.4:c.395_412dup	ENSP00000387657.4:p.Ala137_His138insLeuPr...
ENST00000532957.5:n.966_983dup
NM_000238.3:c.743_760dup , LRG_288t1:c.743_760dup	NP_000229.1:p.Ala253_His254insLeuProSerPr...
NM_172056.2:c.743_760dup , LRG_288t2:c.743_760dup	NP_742053.1:p.Ala253_His254insLeuProSerPr...
XM_011516185.1:c.443_460dup	XP_011514487.1:p.Ala153_His154insLeuProSe...
XM_011516186.1:c.743_760dup	XP_011514488.1:p.Ala253_His254insLeuProSe...
XM_011516185.2:c.443_460dup	XP_011514487.1:p.Ala153_His154insLeuProSe...
XM_011516186.3:c.743_760dup	XP_011514488.1:p.Ala253_His254insLeuProSe...
XM_017012195.1:c.593_610dup	XP_016867684.1:p.Ala203_His204insLeuProSe...
XM_017012196.1:c.566_583dup	XP_016867685.1:p.Ala194_His195insLeuProSe...
NM_000238.4:c.743_760dup MANE Select	NP_000229.1:p.Ala253_His254insLeuProSerPr...