Canonical Allele Identifier: CA658797026

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 519330
• ClinVar RCV Id: RCV000620578
• dbSNP Id: rs1554425724
• MyVariant Identifiers: chr7:g.150648593del (hg19) ; chr7:g.150951505del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951505del , CM000669.2:g.150951505del	GRCh38
NC_000007.13:g.150648593del , CM000669.1:g.150648593del	GRCh37
NC_000007.12:g.150279526del	NCBI36
NG_008916.1:g.31422del , LRG_288:g.31422del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1186del
ENST00000683359.1:n.12del
ENST00000684241.1:n.2721del
ENST00000262186.10:c.1888del MANE Select	ENSP00000262186.5:p.Val630SerfsTer?
ENST00000330883.9:c.868del	ENSP00000328531.4:p.Val290SerfsTer?
ENST00000262186.9:c.1888del	ENSP00000262186.5:p.Val630SerfsTer?
ENST00000330883.8:c.868del	ENSP00000328531.4:p.Val290SerfsTer?
ENST00000430723.4:c.1540del	ENSP00000387657.4:p.Val514SerfsTer?
ENST00000461280.1:n.1175del
ENST00000473610.5:n.1193del
ENST00000532957.5:n.2111del
NM_000238.3:c.1888del , LRG_288t1:c.1888del	NP_000229.1:p.Val630SerfsTer?
NM_001204798.1:c.868del	NP_001191727.1:p.Val290SerfsTer?
NM_172056.2:c.1888del , LRG_288t2:c.1888del	NP_742053.1:p.Val630SerfsTer?
NM_172057.2:c.868del , LRG_288t3:c.868del	NP_742054.1:p.Val290SerfsTer?
XM_011516185.1:c.1588del	XP_011514487.1:p.Val530SerfsTer?
XM_011516186.1:c.1888del	XP_011514488.1:p.Val630SerfsTer?
XM_011516185.2:c.1588del	XP_011514487.1:p.Val530SerfsTer?
XM_011516186.3:c.1888del	XP_011514488.1:p.Val630SerfsTer?
XM_017012195.1:c.1738del	XP_016867684.1:p.Val580SerfsTer?
XM_017012196.1:c.1711del	XP_016867685.1:p.Val571SerfsTer?
NM_000238.4:c.1888del MANE Select	NP_000229.1:p.Val630SerfsTer?
NM_001204798.2:c.868del	NP_001191727.1:p.Val290SerfsTer?
NM_172057.3:c.868del	NP_742054.1:p.Val290SerfsTer?