Canonical Allele Identifier: CA1139660314

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 956361
• ClinVar RCV Id: RCV001229148
• dbSNP Id: rs1801409660

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957393del , CM000669.2:g.150957393del	GRCh38
NC_000007.13:g.150654481del , CM000669.1:g.150654481del	GRCh37
NC_000007.12:g.150285414del	NCBI36
NG_008916.1:g.25535del , LRG_288:g.25535del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1860del
ENST00000262186.10:c.1027del MANE Select	ENSP00000262186.5:p.Leu343SerfsTer17
ENST00000262186.9:c.1027del	ENSP00000262186.5:p.Leu343SerfsTer17
ENST00000430723.4:c.679del	ENSP00000387657.4:p.Leu227SerfsTer17
ENST00000532957.5:n.1250del
NM_000238.3:c.1027del , LRG_288t1:c.1027del	NP_000229.1:p.Leu343SerfsTer17
NM_172056.2:c.1027del , LRG_288t2:c.1027del	NP_742053.1:p.Leu343SerfsTer17
XM_011516185.1:c.727del	XP_011514487.1:p.Leu243SerfsTer17
XM_011516186.1:c.1027del	XP_011514488.1:p.Leu343SerfsTer17
XM_011516185.2:c.727del	XP_011514487.1:p.Leu243SerfsTer17
XM_011516186.3:c.1027del	XP_011514488.1:p.Leu343SerfsTer17
XM_017012195.1:c.877del	XP_016867684.1:p.Leu293SerfsTer17
XM_017012196.1:c.850del	XP_016867685.1:p.Leu284SerfsTer17
NM_000238.4:c.1027del MANE Select	NP_000229.1:p.Leu343SerfsTer17