Canonical Allele Identifier: CA006579

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200650
• ClinVar RCV Id: RCV000181982
• dbSNP Id: rs794728444
• MyVariant Identifiers: chr7:g.150647259del (hg19) ; chr7:g.150950171del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950172del , CM000669.2:g.150950172del	GRCh38
NC_000007.13:g.150647260del , CM000669.1:g.150647260del	GRCh37
NC_000007.12:g.150278193del	NCBI36
NG_008916.1:g.32756del , LRG_288:g.32756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1693del
ENST00000684241.1:n.3228del
ENST00000262186.10:c.2395del MANE Select	ENSP00000262186.5:p.Leu799TrpfsTer11
ENST00000330883.9:c.1375del	ENSP00000328531.4:p.Leu459TrpfsTer11
ENST00000262186.9:c.2395del	ENSP00000262186.5:p.Leu799TrpfsTer11
ENST00000330883.8:c.1375del	ENSP00000328531.4:p.Leu459TrpfsTer11
ENST00000430723.4:c.2047del	ENSP00000387657.4:p.Leu683TrpfsTer24
ENST00000461280.1:n.1682del
ENST00000473610.5:n.2027del
ENST00000532957.5:n.2618del
NM_000238.3:c.2395del , LRG_288t1:c.2395del	NP_000229.1:p.Leu799TrpfsTer11
NM_001204798.1:c.1375del	NP_001191727.1:p.Leu459TrpfsTer24
NM_172056.2:c.2395del , LRG_288t2:c.2395del	NP_742053.1:p.Leu799TrpfsTer24
NM_172057.2:c.1375del , LRG_288t3:c.1375del	NP_742054.1:p.Leu459TrpfsTer11
XM_011516185.1:c.2095del	XP_011514487.1:p.Leu699TrpfsTer11
XM_011516186.1:c.2395del	XP_011514488.1:p.Leu799TrpfsTer11
XM_011516185.2:c.2095del	XP_011514487.1:p.Leu699TrpfsTer11
XM_011516186.3:c.2395del	XP_011514488.1:p.Leu799TrpfsTer11
XM_017012195.1:c.2245del	XP_016867684.1:p.Leu749TrpfsTer11
XM_017012196.1:c.2218del	XP_016867685.1:p.Leu740TrpfsTer11
NM_000238.4:c.2395del MANE Select	NP_000229.1:p.Leu799TrpfsTer11
NM_001204798.2:c.1375del	NP_001191727.1:p.Leu459TrpfsTer24
NM_172057.3:c.1375del	NP_742054.1:p.Leu459TrpfsTer11