Canonical Allele Identifier: CA1108705651

Gene: KCNH2

Linked Data

• gnomAD v3: 7-150950172-GAT-G
• gnomAD v4: 7-150950172-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950173_150950174del , CM000669.2:g.150950173_150950174del	GRCh38
NC_000007.13:g.150647261_150647262del , CM000669.1:g.150647261_150647262del	GRCh37
NC_000007.12:g.150278194_150278195del	NCBI36
NG_008916.1:g.32753_32754del , LRG_288:g.32753_32754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1690_1691del
ENST00000684241.1:n.3225_3226del
ENST00000262186.10:c.2392_2393del MANE Select	ENSP00000262186.5:p.Ile798ProfsTer5
ENST00000330883.9:c.1372_1373del	ENSP00000328531.4:p.Ile458ProfsTer5
ENST00000262186.9:c.2392_2393del	ENSP00000262186.5:p.Ile798ProfsTer5
ENST00000330883.8:c.1372_1373del	ENSP00000328531.4:p.Ile458ProfsTer5
ENST00000430723.4:c.2044_2045del	ENSP00000387657.4:p.Ile682ProfsTer?
ENST00000461280.1:n.1679_1680del
ENST00000473610.5:n.2024_2025del
ENST00000532957.5:n.2615_2616del
NM_000238.3:c.2392_2393del , LRG_288t1:c.2392_2393del	NP_000229.1:p.Ile798ProfsTer5
NM_001204798.1:c.1372_1373del	NP_001191727.1:p.Ile458ProfsTer?
NM_172056.2:c.2392_2393del , LRG_288t2:c.2392_2393del	NP_742053.1:p.Ile798ProfsTer?
NM_172057.2:c.1372_1373del , LRG_288t3:c.1372_1373del	NP_742054.1:p.Ile458ProfsTer5
XM_011516185.1:c.2092_2093del	XP_011514487.1:p.Ile698ProfsTer5
XM_011516186.1:c.2392_2393del	XP_011514488.1:p.Ile798ProfsTer5
XM_011516185.2:c.2092_2093del	XP_011514487.1:p.Ile698ProfsTer5
XM_011516186.3:c.2392_2393del	XP_011514488.1:p.Ile798ProfsTer5
XM_017012195.1:c.2242_2243del	XP_016867684.1:p.Ile748ProfsTer5
XM_017012196.1:c.2215_2216del	XP_016867685.1:p.Ile739ProfsTer5
NM_000238.4:c.2392_2393del MANE Select	NP_000229.1:p.Ile798ProfsTer5
NM_001204798.2:c.1372_1373del	NP_001191727.1:p.Ile458ProfsTer?
NM_172057.3:c.1372_1373del	NP_742054.1:p.Ile458ProfsTer5