Canonical Allele Identifier: CA1108705632

Gene: KCNH2

Linked Data

• dbSNP Id: rs2116948019
• gnomAD v3: 7-150950148-GCCC-G
• gnomAD v4: 7-150950148-GCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950149_150950151del , CM000669.2:g.150950149_150950151del	GRCh38
NC_000007.13:g.150647237_150647239del , CM000669.1:g.150647237_150647239del	GRCh37
NC_000007.12:g.150278170_150278172del	NCBI36
NG_008916.1:g.32776_32778del , LRG_288:g.32776_32778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1713_1715del
ENST00000684241.1:n.3231+17_3231+19del
ENST00000262186.10:c.2398+17_2398+19del MANE Select	ENSP00000262186.5:n.2398+17_2398+19del
ENST00000330883.9:c.1378+17_1378+19del	ENSP00000328531.4:n.1378+17_1378+19del
ENST00000262186.9:c.2398+17_2398+19del	ENSP00000262186.5:n.2398+17_2398+19del
ENST00000330883.8:c.1378+17_1378+19del	ENSP00000328531.4:n.1378+17_1378+19del
ENST00000430723.4:c.2067_2069del	ENSP00000387657.4:p.Gly690del
ENST00000461280.1:n.1702_1704del
ENST00000473610.5:n.2047_2049del
ENST00000532957.5:n.2638_2640del
NM_000238.3:c.2398+17_2398+19del , LRG_288t1:c.2398+17_2398+19del	NP_000229.1:n.2398+17_2398+19del
NM_001204798.1:c.1395_1397del	NP_001191727.1:p.Gly466del
NM_172056.2:c.2415_2417del , LRG_288t2:c.2415_2417del	NP_742053.1:p.Gly806del
NM_172057.2:c.1378+17_1378+19del , LRG_288t3:c.1378+17_1378+19del	NP_742054.1:n.1378+17_1378+19del
XM_011516185.1:c.2098+17_2098+19del	XP_011514487.1:n.2098+17_2098+19del
XM_011516186.1:c.2398+17_2398+19del	XP_011514488.1:n.2398+17_2398+19del
XM_011516185.2:c.2098+17_2098+19del	XP_011514487.1:n.2098+17_2098+19del
XM_011516186.3:c.2398+17_2398+19del	XP_011514488.1:n.2398+17_2398+19del
XM_017012195.1:c.2248+17_2248+19del	XP_016867684.1:n.2248+17_2248+19del
XM_017012196.1:c.2221+17_2221+19del	XP_016867685.1:n.2221+17_2221+19del
NM_000238.4:c.2398+17_2398+19del MANE Select	NP_000229.1:n.2398+17_2398+19del
NM_001204798.2:c.1395_1397del	NP_001191727.1:p.Gly466del
NM_172057.3:c.1378+17_1378+19del	NP_742054.1:n.1378+17_1378+19del