Canonical Allele Identifier: CA835224890

Gene: KCNH2

Linked Data

• dbSNP Id: rs1158148460
• gnomAD v3: 7-150950047-GCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGC-G
• gnomAD v4: 7-150950047-GCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGC-G
• MyVariant Identifiers: chr7:g.150647136_150647170del (hg19) ; chr7:g.150950048_150950082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950057_150950091del , CM000669.2:g.150950057_150950091del	GRCh38
NC_000007.13:g.150647145_150647179del , CM000669.1:g.150647145_150647179del	GRCh37
NC_000007.12:g.150278078_150278112del	NCBI36
NG_008916.1:g.32845_32879del , LRG_288:g.32845_32879del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1782_1816del
ENST00000684241.1:n.3231+86_3231+120del
ENST00000262186.10:c.2398+86_2398+120del MANE Select	ENSP00000262186.5:n.2398+86_2398+120del
ENST00000330883.9:c.1378+86_1378+120del	ENSP00000328531.4:n.1378+86_1378+120del
ENST00000262186.9:c.2398+86_2398+120del	ENSP00000262186.5:n.2398+86_2398+120del
ENST00000330883.8:c.1378+86_1378+120del	ENSP00000328531.4:n.1378+86_1378+120del
ENST00000430723.4:c.2136_2170del	ENSP00000387657.4:p.Leu713SerfsTer22
ENST00000461280.1:n.1771_1805del
ENST00000473610.5:n.2116_2150del
ENST00000532957.5:n.2707_2741del
NM_000238.3:c.2398+86_2398+120del , LRG_288t1:c.2398+86_2398+120del	NP_000229.1:n.2398+86_2398+120del
NM_001204798.1:c.1464_1498del	NP_001191727.1:p.Leu489SerfsTer22
NM_172056.2:c.2484_2518del , LRG_288t2:c.2484_2518del	NP_742053.1:p.Leu829SerfsTer22
NM_172057.2:c.1378+86_1378+120del , LRG_288t3:c.1378+86_1378+120del	NP_742054.1:n.1378+86_1378+120del
XM_011516185.1:c.2098+86_2098+120del	XP_011514487.1:n.2098+86_2098+120del
XM_011516186.1:c.2398+86_2398+120del	XP_011514488.1:n.2398+86_2398+120del
XM_011516185.2:c.2098+86_2098+120del	XP_011514487.1:n.2098+86_2098+120del
XM_011516186.3:c.2398+86_2398+120del	XP_011514488.1:n.2398+86_2398+120del
XM_017012195.1:c.2248+86_2248+120del	XP_016867684.1:n.2248+86_2248+120del
XM_017012196.1:c.2221+86_2221+120del	XP_016867685.1:n.2221+86_2221+120del
NM_000238.4:c.2398+86_2398+120del MANE Select	NP_000229.1:n.2398+86_2398+120del
NM_001204798.2:c.1464_1498del	NP_001191727.1:p.Leu489SerfsTer22
NM_172057.3:c.1378+86_1378+120del	NP_742054.1:n.1378+86_1378+120del