Canonical Allele Identifier: CA915945578

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 818076
• ClinVar RCV Id: RCV001009320 ; RCV001089533
• dbSNP Id: rs1584863723

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957319del , CM000669.2:g.150957319del	GRCh38
NC_000007.13:g.150654407del , CM000669.1:g.150654407del	GRCh37
NC_000007.12:g.150285340del	NCBI36
NG_008916.1:g.25610del , LRG_288:g.25610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1935del
ENST00000262186.10:c.1102del MANE Select	ENSP00000262186.5:p.His368ThrfsTer?
ENST00000262186.9:c.1102del	ENSP00000262186.5:p.His368ThrfsTer?
ENST00000430723.4:c.754del	ENSP00000387657.4:p.His252ThrfsTer?
ENST00000532957.5:n.1325del
NM_000238.3:c.1102del , LRG_288t1:c.1102del	NP_000229.1:p.His368ThrfsTer?
NM_172056.2:c.1102del , LRG_288t2:c.1102del	NP_742053.1:p.His368ThrfsTer?
XM_011516185.1:c.802del	XP_011514487.1:p.His268ThrfsTer?
XM_011516186.1:c.1102del	XP_011514488.1:p.His368ThrfsTer?
XM_011516185.2:c.802del	XP_011514487.1:p.His268ThrfsTer?
XM_011516186.3:c.1102del	XP_011514488.1:p.His368ThrfsTer?
XM_017012195.1:c.952del	XP_016867684.1:p.His318ThrfsTer?
XM_017012196.1:c.925del	XP_016867685.1:p.His309ThrfsTer?
NM_000238.4:c.1102del MANE Select	NP_000229.1:p.His368ThrfsTer?