Canonical Allele Identifier: CA2685607666

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958200-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958204del , CM000669.2:g.150958204del	GRCh38
NC_000007.13:g.150655292del , CM000669.1:g.150655292del	GRCh37
NC_000007.12:g.150286225del	NCBI36
NG_008916.1:g.24726del , LRG_288:g.24726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1607del
ENST00000262186.10:c.774del MANE Select	ENSP00000262186.5:p.Asp259ThrfsTer?
ENST00000262186.9:c.774del	ENSP00000262186.5:p.Asp259ThrfsTer?
ENST00000430723.4:c.426del	ENSP00000387657.4:p.Asp143ThrfsTer?
ENST00000532957.5:n.997del
NM_000238.3:c.774del , LRG_288t1:c.774del	NP_000229.1:p.Asp259ThrfsTer?
NM_172056.2:c.774del , LRG_288t2:c.774del	NP_742053.1:p.Asp259ThrfsTer?
XM_011516185.1:c.474del	XP_011514487.1:p.Asp159ThrfsTer?
XM_011516186.1:c.774del	XP_011514488.1:p.Asp259ThrfsTer?
XM_011516185.2:c.474del	XP_011514487.1:p.Asp159ThrfsTer?
XM_011516186.3:c.774del	XP_011514488.1:p.Asp259ThrfsTer?
XM_017012195.1:c.624del	XP_016867684.1:p.Asp209ThrfsTer?
XM_017012196.1:c.597del	XP_016867685.1:p.Asp200ThrfsTer?
NM_000238.4:c.774del MANE Select	NP_000229.1:p.Asp259ThrfsTer?