Canonical Allele Identifier: CA2499218809

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1070517
• ClinVar RCV Id: RCV001382699
• dbSNP Id: rs2117005326
• gnomAD v4: 7-150958305-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958306del , CM000669.2:g.150958306del	GRCh38
NC_000007.13:g.150655394del , CM000669.1:g.150655394del	GRCh37
NC_000007.12:g.150286327del	NCBI36
NG_008916.1:g.24621del , LRG_288:g.24621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1502del
ENST00000262186.10:c.669del MANE Select	ENSP00000262186.5:p.Leu225SerfsTer?
ENST00000262186.9:c.669del	ENSP00000262186.5:p.Leu225SerfsTer?
ENST00000430723.4:c.321del	ENSP00000387657.4:p.Leu109SerfsTer?
ENST00000532957.5:n.892del
NM_000238.3:c.669del , LRG_288t1:c.669del	NP_000229.1:p.Leu225SerfsTer?
NM_172056.2:c.669del , LRG_288t2:c.669del	NP_742053.1:p.Leu225SerfsTer?
XM_011516185.1:c.369del	XP_011514487.1:p.Leu125SerfsTer?
XM_011516186.1:c.669del	XP_011514488.1:p.Leu225SerfsTer?
XM_011516185.2:c.369del	XP_011514487.1:p.Leu125SerfsTer?
XM_011516186.3:c.669del	XP_011514488.1:p.Leu225SerfsTer?
XM_017012195.1:c.519del	XP_016867684.1:p.Leu175SerfsTer?
XM_017012196.1:c.492del	XP_016867685.1:p.Leu166SerfsTer?
NM_000238.4:c.669del MANE Select	NP_000229.1:p.Leu225SerfsTer?