Canonical Allele Identifier: CA2685601900

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801079545
• gnomAD v4: 7-150950145-A-AGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950146_150950147insGGGGGG , CM000669.2:g.150950146_150950147insGGGGGG	GRCh38
NC_000007.13:g.150647234_150647235insGGGGGG , CM000669.1:g.150647234_150647235insGGGGGG	GRCh37
NC_000007.12:g.150278167_150278168insGGGGGG	NCBI36
NG_008916.1:g.32781_32782insCCCCCC , LRG_288:g.32781_32782insCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1718_1719insCCCCCC
ENST00000684241.1:n.3231+22_3231+23insCCCCCC
ENST00000262186.10:c.2398+22_2398+23insCCCCCC MANE Select	ENSP00000262186.5:n.2398+22_2398+23insCCCCCC
ENST00000330883.9:c.1378+22_1378+23insCCCCCC	ENSP00000328531.4:n.1378+22_1378+23insCCCCCC
ENST00000262186.9:c.2398+22_2398+23insCCCCCC	ENSP00000262186.5:n.2398+22_2398+23insCCCCCC
ENST00000330883.8:c.1378+22_1378+23insCCCCCC	ENSP00000328531.4:n.1378+22_1378+23insCCCCCC
ENST00000430723.4:c.2072_2073insCCCCCC	ENSP00000387657.4:p.Thr691_Gly692insProPro
ENST00000461280.1:n.1707_1708insCCCCCC
ENST00000473610.5:n.2052_2053insCCCCCC
ENST00000532957.5:n.2643_2644insCCCCCC
NM_000238.3:c.2398+22_2398+23insCCCCCC , LRG_288t1:c.2398+22_2398+23insCCCCCC	NP_000229.1:n.2398+22_2398+23insCCCCCC
NM_001204798.1:c.1400_1401insCCCCCC	NP_001191727.1:p.Thr467_Gly468insProPro
NM_172056.2:c.2420_2421insCCCCCC , LRG_288t2:c.2420_2421insCCCCCC	NP_742053.1:p.Thr807_Gly808insProPro
NM_172057.2:c.1378+22_1378+23insCCCCCC , LRG_288t3:c.1378+22_1378+23insCCCCCC	NP_742054.1:n.1378+22_1378+23insCCCCCC
XM_011516185.1:c.2098+22_2098+23insCCCCCC	XP_011514487.1:n.2098+22_2098+23insCCCCCC
XM_011516186.1:c.2398+22_2398+23insCCCCCC	XP_011514488.1:n.2398+22_2398+23insCCCCCC
XM_011516185.2:c.2098+22_2098+23insCCCCCC	XP_011514487.1:n.2098+22_2098+23insCCCCCC
XM_011516186.3:c.2398+22_2398+23insCCCCCC	XP_011514488.1:n.2398+22_2398+23insCCCCCC
XM_017012195.1:c.2248+22_2248+23insCCCCCC	XP_016867684.1:n.2248+22_2248+23insCCCCCC
XM_017012196.1:c.2221+22_2221+23insCCCCCC	XP_016867685.1:n.2221+22_2221+23insCCCCCC
NM_000238.4:c.2398+22_2398+23insCCCCCC MANE Select	NP_000229.1:n.2398+22_2398+23insCCCCCC
NM_001204798.2:c.1400_1401insCCCCCC	NP_001191727.1:p.Thr467_Gly468insProPro
NM_172057.3:c.1378+22_1378+23insCCCCCC	NP_742054.1:n.1378+22_1378+23insCCCCCC