Canonical Allele Identifier: CA006175

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200791
• ClinVar RCV Id: RCV001842862
• dbSNP Id: rs794728500
• MyVariant Identifiers: chr7:g.150648101del (hg19) ; chr7:g.150951013del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951014del , CM000669.2:g.150951014del	GRCh38
NC_000007.13:g.150648102del , CM000669.1:g.150648102del	GRCh37
NC_000007.12:g.150279035del	NCBI36
NG_008916.1:g.31914del , LRG_288:g.31914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1351del
ENST00000683359.1:n.177del
ENST00000684241.1:n.2886del
ENST00000262186.10:c.2053del MANE Select	ENSP00000262186.5:p.Arg685AlafsTer29
ENST00000330883.9:c.1033del	ENSP00000328531.4:p.Arg345AlafsTer29
ENST00000262186.9:c.2053del	ENSP00000262186.5:p.Arg685AlafsTer29
ENST00000330883.8:c.1033del	ENSP00000328531.4:p.Arg345AlafsTer29
ENST00000430723.4:c.1705del	ENSP00000387657.4:p.Arg569AlafsTer29
ENST00000461280.1:n.1340del
ENST00000473610.5:n.1685del
ENST00000532957.5:n.2276del
NM_000238.3:c.2053del , LRG_288t1:c.2053del	NP_000229.1:p.Arg685AlafsTer29
NM_001204798.1:c.1033del	NP_001191727.1:p.Arg345AlafsTer29
NM_172056.2:c.2053del , LRG_288t2:c.2053del	NP_742053.1:p.Arg685AlafsTer29
NM_172057.2:c.1033del , LRG_288t3:c.1033del	NP_742054.1:p.Arg345AlafsTer29
XM_011516185.1:c.1753del	XP_011514487.1:p.Arg585AlafsTer29
XM_011516186.1:c.2053del	XP_011514488.1:p.Arg685AlafsTer29
XM_011516185.2:c.1753del	XP_011514487.1:p.Arg585AlafsTer29
XM_011516186.3:c.2053del	XP_011514488.1:p.Arg685AlafsTer29
XM_017012195.1:c.1903del	XP_016867684.1:p.Arg635AlafsTer29
XM_017012196.1:c.1876del	XP_016867685.1:p.Arg626AlafsTer29
NM_000238.4:c.2053del MANE Select	NP_000229.1:p.Arg685AlafsTer29
NM_001204798.2:c.1033del	NP_001191727.1:p.Arg345AlafsTer29
NM_172057.3:c.1033del	NP_742054.1:p.Arg345AlafsTer29