Canonical Allele Identifier: CA1139660306

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 941189
• ClinVar RCV Id: RCV001210923
• dbSNP Id: rs1801134712

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951081_150951104del , CM000669.2:g.150951081_150951104del	GRCh38
NC_000007.13:g.150648169_150648192del , CM000669.1:g.150648169_150648192del	GRCh37
NC_000007.12:g.150279102_150279125del	NCBI36
NG_008916.1:g.31827_31850del , LRG_288:g.31827_31850del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1264_1287del
ENST00000683359.1:n.90_113del
ENST00000684241.1:n.2799_2822del
ENST00000262186.10:c.1966_1989del MANE Select	ENSP00000262186.5:p.Phe656_Ile663del
ENST00000330883.9:c.946_969del	ENSP00000328531.4:p.Phe316_Ile323del
ENST00000262186.9:c.1966_1989del	ENSP00000262186.5:p.Phe656_Ile663del
ENST00000330883.8:c.946_969del	ENSP00000328531.4:p.Phe316_Ile323del
ENST00000430723.4:c.1618_1641del	ENSP00000387657.4:p.Phe540_Ile547del
ENST00000461280.1:n.1253_1276del
ENST00000473610.5:n.1598_1621del
ENST00000532957.5:n.2189_2212del
NM_000238.3:c.1966_1989del , LRG_288t1:c.1966_1989del	NP_000229.1:p.Phe656_Ile663del
NM_001204798.1:c.946_969del	NP_001191727.1:p.Phe316_Ile323del
NM_172056.2:c.1966_1989del , LRG_288t2:c.1966_1989del	NP_742053.1:p.Phe656_Ile663del
NM_172057.2:c.946_969del , LRG_288t3:c.946_969del	NP_742054.1:p.Phe316_Ile323del
XM_011516185.1:c.1666_1689del	XP_011514487.1:p.Phe556_Ile563del
XM_011516186.1:c.1966_1989del	XP_011514488.1:p.Phe656_Ile663del
XM_011516185.2:c.1666_1689del	XP_011514487.1:p.Phe556_Ile563del
XM_011516186.3:c.1966_1989del	XP_011514488.1:p.Phe656_Ile663del
XM_017012195.1:c.1816_1839del	XP_016867684.1:p.Phe606_Ile613del
XM_017012196.1:c.1789_1812del	XP_016867685.1:p.Phe597_Ile604del
NM_000238.4:c.1966_1989del MANE Select	NP_000229.1:p.Phe656_Ile663del
NM_001204798.2:c.946_969del	NP_001191727.1:p.Phe316_Ile323del
NM_172057.3:c.946_969del	NP_742054.1:p.Phe316_Ile323del