Canonical Allele Identifier: CA2685608398

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958343-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958345del , CM000669.2:g.150958345del	GRCh38
NC_000007.13:g.150655433del , CM000669.1:g.150655433del	GRCh37
NC_000007.12:g.150286366del	NCBI36
NG_008916.1:g.24583del , LRG_288:g.24583del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1464del
ENST00000262186.10:c.631del MANE Select	ENSP00000262186.5:p.Ala211ProfsTer5
ENST00000262186.9:c.631del	ENSP00000262186.5:p.Ala211ProfsTer5
ENST00000430723.4:c.283del	ENSP00000387657.4:p.Ala95ProfsTer5
ENST00000532957.5:n.854del
NM_000238.3:c.631del , LRG_288t1:c.631del	NP_000229.1:p.Ala211ProfsTer5
NM_172056.2:c.631del , LRG_288t2:c.631del	NP_742053.1:p.Ala211ProfsTer5
XM_011516185.1:c.331del	XP_011514487.1:p.Ala111ProfsTer5
XM_011516186.1:c.631del	XP_011514488.1:p.Ala211ProfsTer5
XM_011516185.2:c.331del	XP_011514487.1:p.Ala111ProfsTer5
XM_011516186.3:c.631del	XP_011514488.1:p.Ala211ProfsTer5
XM_017012195.1:c.481del	XP_016867684.1:p.Ala161ProfsTer5
XM_017012196.1:c.454del	XP_016867685.1:p.Ala152ProfsTer5
NM_000238.4:c.631del MANE Select	NP_000229.1:p.Ala211ProfsTer5