Canonical Allele Identifier: CA916080379

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 835590
• ClinVar RCV Id: RCV001036510
• dbSNP Id: rs1801444435

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958197_150958203del , CM000669.2:g.150958197_150958203del	GRCh38
NC_000007.13:g.150655285_150655291del , CM000669.1:g.150655285_150655291del	GRCh37
NC_000007.12:g.150286218_150286224del	NCBI36
NG_008916.1:g.24726_24732del , LRG_288:g.24726_24732del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1607_1613del
ENST00000262186.10:c.774_780del MANE Select	ENSP00000262186.5:p.Asp259ArgfsTer?
ENST00000262186.9:c.774_780del	ENSP00000262186.5:p.Asp259ArgfsTer?
ENST00000430723.4:c.426_432del	ENSP00000387657.4:p.Asp143ArgfsTer?
ENST00000532957.5:n.997_1003del
NM_000238.3:c.774_780del , LRG_288t1:c.774_780del	NP_000229.1:p.Asp259ArgfsTer?
NM_172056.2:c.774_780del , LRG_288t2:c.774_780del	NP_742053.1:p.Asp259ArgfsTer?
XM_011516185.1:c.474_480del	XP_011514487.1:p.Asp159ArgfsTer?
XM_011516186.1:c.774_780del	XP_011514488.1:p.Asp259ArgfsTer?
XM_011516185.2:c.474_480del	XP_011514487.1:p.Asp159ArgfsTer?
XM_011516186.3:c.774_780del	XP_011514488.1:p.Asp259ArgfsTer?
XM_017012195.1:c.624_630del	XP_016867684.1:p.Asp209ArgfsTer?
XM_017012196.1:c.597_603del	XP_016867685.1:p.Asp200ArgfsTer?
NM_000238.4:c.774_780del MANE Select	NP_000229.1:p.Asp259ArgfsTer?