Canonical Allele Identifier: CA006594

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200237
• ClinVar RCV Id: RCV000181731 ; RCV001582675 ; RCV001842806
• dbSNP Id: rs546898924
• ExAC: 7:150647150 AG / A
• gnomAD v2: 7-150647150-AG-A
• gnomAD v3: 7-150950062-AG-A
• gnomAD v4: 7-150950062-AG-A
• MyVariant Identifiers: chr7:g.150647151del (hg19) ; chr7:g.150950064del (hg38) ; chr7:g.150950063del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950064del , CM000669.2:g.150950064del	GRCh38
NC_000007.13:g.150647152del , CM000669.1:g.150647152del	GRCh37
NC_000007.12:g.150278085del	NCBI36
NG_008916.1:g.32864del , LRG_288:g.32864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1801del
ENST00000684241.1:n.3231+105del
ENST00000262186.10:c.2398+105del MANE Select	ENSP00000262186.5:n.2398+105del
ENST00000330883.9:c.1378+105del	ENSP00000328531.4:n.1378+105del
ENST00000262186.9:c.2398+105del	ENSP00000262186.5:n.2398+105del
ENST00000330883.8:c.1378+105del	ENSP00000328531.4:n.1378+105del
ENST00000430723.4:c.2155del	ENSP00000387657.4:p.Leu719CysfsTer8
ENST00000461280.1:n.1790del
ENST00000473610.5:n.2135del
ENST00000532957.5:n.2726del
NM_000238.3:c.2398+105del , LRG_288t1:c.2398+105del	NP_000229.1:n.2398+105del
NM_001204798.1:c.1483del	NP_001191727.1:p.Leu495CysfsTer8
NM_172056.2:c.2503del , LRG_288t2:c.2503del	NP_742053.1:p.Leu835CysfsTer8
NM_172057.2:c.1378+105del , LRG_288t3:c.1378+105del	NP_742054.1:n.1378+105del
XM_011516185.1:c.2098+105del	XP_011514487.1:n.2098+105del
XM_011516186.1:c.2398+105del	XP_011514488.1:n.2398+105del
XM_011516185.2:c.2098+105del	XP_011514487.1:n.2098+105del
XM_011516186.3:c.2398+105del	XP_011514488.1:n.2398+105del
XM_017012195.1:c.2248+105del	XP_016867684.1:n.2248+105del
XM_017012196.1:c.2221+105del	XP_016867685.1:n.2221+105del
NM_000238.4:c.2398+105del MANE Select	NP_000229.1:n.2398+105del
NM_001204798.2:c.1483del	NP_001191727.1:p.Leu495CysfsTer8
NM_172057.3:c.1378+105del	NP_742054.1:n.1378+105del