Canonical Allele Identifier: CA16609732

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 402996
• ClinVar RCV Id: RCV000455728
• dbSNP Id: rs1060499871
• MyVariant Identifiers: chr7:g.150647185del (hg19) ; chr7:g.150950097del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950097del , CM000669.2:g.150950097del	GRCh38
NC_000007.13:g.150647185del , CM000669.1:g.150647185del	GRCh37
NC_000007.12:g.150278118del	NCBI36
NG_008916.1:g.32830del , LRG_288:g.32830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1767del
ENST00000684241.1:n.3231+71del
ENST00000262186.10:c.2398+71del MANE Select	ENSP00000262186.5:n.2398+71del
ENST00000330883.9:c.1378+71del	ENSP00000328531.4:n.1378+71del
ENST00000262186.9:c.2398+71del	ENSP00000262186.5:n.2398+71del
ENST00000330883.8:c.1378+71del	ENSP00000328531.4:n.1378+71del
ENST00000430723.4:c.2121del	ENSP00000387657.4:p.Asn707LysfsTer20
ENST00000461280.1:n.1756del
ENST00000473610.5:n.2101del
ENST00000532957.5:n.2692del
NM_000238.3:c.2398+71del , LRG_288t1:c.2398+71del	NP_000229.1:n.2398+71del
NM_001204798.1:c.1449del	NP_001191727.1:p.Asn483LysfsTer20
NM_172056.2:c.2469del , LRG_288t2:c.2469del	NP_742053.1:p.Asn823LysfsTer20
NM_172057.2:c.1378+71del , LRG_288t3:c.1378+71del	NP_742054.1:n.1378+71del
XM_011516185.1:c.2098+71del	XP_011514487.1:n.2098+71del
XM_011516186.1:c.2398+71del	XP_011514488.1:n.2398+71del
XM_011516185.2:c.2098+71del	XP_011514487.1:n.2098+71del
XM_011516186.3:c.2398+71del	XP_011514488.1:n.2398+71del
XM_017012195.1:c.2248+71del	XP_016867684.1:n.2248+71del
XM_017012196.1:c.2221+71del	XP_016867685.1:n.2221+71del
NM_000238.4:c.2398+71del MANE Select	NP_000229.1:n.2398+71del
NM_001204798.2:c.1449del	NP_001191727.1:p.Asn483LysfsTer20
NM_172057.3:c.1378+71del	NP_742054.1:n.1378+71del