Canonical Allele Identifier: CA2685608157

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958293-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958296del , CM000669.2:g.150958296del	GRCh38
NC_000007.13:g.150655384del , CM000669.1:g.150655384del	GRCh37
NC_000007.12:g.150286317del	NCBI36
NG_008916.1:g.24633del , LRG_288:g.24633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1514del
ENST00000262186.10:c.681del MANE Select	ENSP00000262186.5:p.Ala228ArgfsTer?
ENST00000262186.9:c.681del	ENSP00000262186.5:p.Ala228ArgfsTer?
ENST00000430723.4:c.333del	ENSP00000387657.4:p.Ala112ArgfsTer?
ENST00000532957.5:n.904del
NM_000238.3:c.681del , LRG_288t1:c.681del	NP_000229.1:p.Ala228ArgfsTer?
NM_172056.2:c.681del , LRG_288t2:c.681del	NP_742053.1:p.Ala228ArgfsTer?
XM_011516185.1:c.381del	XP_011514487.1:p.Ala128ArgfsTer?
XM_011516186.1:c.681del	XP_011514488.1:p.Ala228ArgfsTer?
XM_011516185.2:c.381del	XP_011514487.1:p.Ala128ArgfsTer?
XM_011516186.3:c.681del	XP_011514488.1:p.Ala228ArgfsTer?
XM_017012195.1:c.531del	XP_016867684.1:p.Ala178ArgfsTer?
XM_017012196.1:c.504del	XP_016867685.1:p.Ala169ArgfsTer?
NM_000238.4:c.681del MANE Select	NP_000229.1:p.Ala228ArgfsTer?