Canonical Allele Identifier: CA2685605625

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150957369-AGCCAAGAAGGGGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957373_150957386del , CM000669.2:g.150957373_150957386del	GRCh38
NC_000007.13:g.150654461_150654474del , CM000669.1:g.150654461_150654474del	GRCh37
NC_000007.12:g.150285394_150285407del	NCBI36
NG_008916.1:g.25544_25557del , LRG_288:g.25544_25557del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1869_1882del
ENST00000262186.10:c.1036_1049del MANE Select	ENSP00000262186.5:p.Asp346PhefsTer5
ENST00000262186.9:c.1036_1049del	ENSP00000262186.5:p.Asp346PhefsTer5
ENST00000430723.4:c.688_701del	ENSP00000387657.4:p.Asp230PhefsTer5
ENST00000532957.5:n.1259_1272del
NM_000238.3:c.1036_1049del , LRG_288t1:c.1036_1049del	NP_000229.1:p.Asp346PhefsTer5
NM_172056.2:c.1036_1049del , LRG_288t2:c.1036_1049del	NP_742053.1:p.Asp346PhefsTer5
XM_011516185.1:c.736_749del	XP_011514487.1:p.Asp246PhefsTer5
XM_011516186.1:c.1036_1049del	XP_011514488.1:p.Asp346PhefsTer5
XM_011516185.2:c.736_749del	XP_011514487.1:p.Asp246PhefsTer5
XM_011516186.3:c.1036_1049del	XP_011514488.1:p.Asp346PhefsTer5
XM_017012195.1:c.886_899del	XP_016867684.1:p.Asp296PhefsTer5
XM_017012196.1:c.859_872del	XP_016867685.1:p.Asp287PhefsTer5
NM_000238.4:c.1036_1049del MANE Select	NP_000229.1:p.Asp346PhefsTer5