Canonical Allele Identifier: CA2685608227

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958306-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958307del , CM000669.2:g.150958307del	GRCh38
NC_000007.13:g.150655395del , CM000669.1:g.150655395del	GRCh37
NC_000007.12:g.150286328del	NCBI36
NG_008916.1:g.24620del , LRG_288:g.24620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1501del
ENST00000262186.10:c.668del MANE Select	ENSP00000262186.5:p.Ala223GlufsTer?
ENST00000262186.9:c.668del	ENSP00000262186.5:p.Ala223GlufsTer?
ENST00000430723.4:c.320del	ENSP00000387657.4:p.Ala107GlufsTer?
ENST00000532957.5:n.891del
NM_000238.3:c.668del , LRG_288t1:c.668del	NP_000229.1:p.Ala223GlufsTer?
NM_172056.2:c.668del , LRG_288t2:c.668del	NP_742053.1:p.Ala223GlufsTer?
XM_011516185.1:c.368del	XP_011514487.1:p.Ala123GlufsTer?
XM_011516186.1:c.668del	XP_011514488.1:p.Ala223GlufsTer?
XM_011516185.2:c.368del	XP_011514487.1:p.Ala123GlufsTer?
XM_011516186.3:c.668del	XP_011514488.1:p.Ala223GlufsTer?
XM_017012195.1:c.518del	XP_016867684.1:p.Ala173GlufsTer?
XM_017012196.1:c.491del	XP_016867685.1:p.Ala164GlufsTer?
NM_000238.4:c.668del MANE Select	NP_000229.1:p.Ala223GlufsTer?