Canonical Allele Identifier: CA2685604017

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950177-C-CGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950177_150950178insGGGGGGGGGGGGGGGGG , CM000669.2:g.150950177_150950178insGGGGGGGGGGGGGGGGG	GRCh38
NC_000007.13:g.150647265_150647266insGGGGGGGGGGGGGGGGG , CM000669.1:g.150647265_150647266insGGGGGGGGGGGGGGGGG	GRCh37
NC_000007.12:g.150278198_150278199insGGGGGGGGGGGGGGGGG	NCBI36
NG_008916.1:g.32749_32750insCCCCCCCCCCCCCCCCC , LRG_288:g.32749_32750insCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1686_1687insCCCCCCCCCCCCCCCCC
ENST00000684241.1:n.3221_3222insCCCCCCCCCCCCCCCCC
ENST00000262186.10:c.2388_2389insCCCCCCCCCCCCCCCCC MANE Select	ENSP00000262186.5:p.Ala797ProfsTer19
ENST00000330883.9:c.1368_1369insCCCCCCCCCCCCCCCCC	ENSP00000328531.4:p.Ala457ProfsTer19
ENST00000262186.9:c.2388_2389insCCCCCCCCCCCCCCCCC	ENSP00000262186.5:p.Ala797ProfsTer19
ENST00000330883.8:c.1368_1369insCCCCCCCCCCCCCCCCC	ENSP00000328531.4:p.Ala457ProfsTer19
ENST00000430723.4:c.2040_2041insCCCCCCCCCCCCCCCCC	ENSP00000387657.4:p.Ala681ProfsTer32
ENST00000461280.1:n.1675_1676insCCCCCCCCCCCCCCCCC
ENST00000473610.5:n.2020_2021insCCCCCCCCCCCCCCCCC
ENST00000532957.5:n.2611_2612insCCCCCCCCCCCCCCCCC
NM_000238.3:c.2388_2389insCCCCCCCCCCCCCCCCC , LRG_288t1:c.2388_2389insCCCCCCCCCCCCCCCCC	NP_000229.1:p.Ala797ProfsTer19
NM_001204798.1:c.1368_1369insCCCCCCCCCCCCCCCCC	NP_001191727.1:p.Ala457ProfsTer32
NM_172056.2:c.2388_2389insCCCCCCCCCCCCCCCCC , LRG_288t2:c.2388_2389insCCCCCCCCCCCCCCCCC	NP_742053.1:p.Ala797ProfsTer32
NM_172057.2:c.1368_1369insCCCCCCCCCCCCCCCCC , LRG_288t3:c.1368_1369insCCCCCCCCCCCCCCCCC	NP_742054.1:p.Ala457ProfsTer19
XM_011516185.1:c.2088_2089insCCCCCCCCCCCCCCCCC	XP_011514487.1:p.Ala697ProfsTer19
XM_011516186.1:c.2388_2389insCCCCCCCCCCCCCCCCC	XP_011514488.1:p.Ala797ProfsTer19
XM_011516185.2:c.2088_2089insCCCCCCCCCCCCCCCCC	XP_011514487.1:p.Ala697ProfsTer19
XM_011516186.3:c.2388_2389insCCCCCCCCCCCCCCCCC	XP_011514488.1:p.Ala797ProfsTer19
XM_017012195.1:c.2238_2239insCCCCCCCCCCCCCCCCC	XP_016867684.1:p.Ala747ProfsTer19
XM_017012196.1:c.2211_2212insCCCCCCCCCCCCCCCCC	XP_016867685.1:p.Ala738ProfsTer19
NM_000238.4:c.2388_2389insCCCCCCCCCCCCCCCCC MANE Select	NP_000229.1:p.Ala797ProfsTer19
NM_001204798.2:c.1368_1369insCCCCCCCCCCCCCCCCC	NP_001191727.1:p.Ala457ProfsTer32
NM_172057.3:c.1368_1369insCCCCCCCCCCCCCCCCC	NP_742054.1:p.Ala457ProfsTer19