Canonical Allele Identifier: CA2605591222

Gene: KCNH2

Linked Data

• dbSNP Id: rs2116948495
• gnomAD v3: 7-150950176-GCCAC-G
• gnomAD v4: 7-150950176-GCCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950177_150950180del , CM000669.2:g.150950177_150950180del	GRCh38
NC_000007.13:g.150647265_150647268del , CM000669.1:g.150647265_150647268del	GRCh37
NC_000007.12:g.150278198_150278201del	NCBI36
NG_008916.1:g.32747_32750del , LRG_288:g.32747_32750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1684_1687del
ENST00000684241.1:n.3219_3222del
ENST00000262186.10:c.2386_2389del MANE Select	ENSP00000262186.5:p.Val796ProfsTer13
ENST00000330883.9:c.1366_1369del	ENSP00000328531.4:p.Val456ProfsTer13
ENST00000262186.9:c.2386_2389del	ENSP00000262186.5:p.Val796ProfsTer13
ENST00000330883.8:c.1366_1369del	ENSP00000328531.4:p.Val456ProfsTer13
ENST00000430723.4:c.2038_2041del	ENSP00000387657.4:p.Val680ProfsTer26
ENST00000461280.1:n.1673_1676del
ENST00000473610.5:n.2018_2021del
ENST00000532957.5:n.2609_2612del
NM_000238.3:c.2386_2389del , LRG_288t1:c.2386_2389del	NP_000229.1:p.Val796ProfsTer13
NM_001204798.1:c.1366_1369del	NP_001191727.1:p.Val456ProfsTer26
NM_172056.2:c.2386_2389del , LRG_288t2:c.2386_2389del	NP_742053.1:p.Val796ProfsTer26
NM_172057.2:c.1366_1369del , LRG_288t3:c.1366_1369del	NP_742054.1:p.Val456ProfsTer13
XM_011516185.1:c.2086_2089del	XP_011514487.1:p.Val696ProfsTer13
XM_011516186.1:c.2386_2389del	XP_011514488.1:p.Val796ProfsTer13
XM_011516185.2:c.2086_2089del	XP_011514487.1:p.Val696ProfsTer13
XM_011516186.3:c.2386_2389del	XP_011514488.1:p.Val796ProfsTer13
XM_017012195.1:c.2236_2239del	XP_016867684.1:p.Val746ProfsTer13
XM_017012196.1:c.2209_2212del	XP_016867685.1:p.Val737ProfsTer13
NM_000238.4:c.2386_2389del MANE Select	NP_000229.1:p.Val796ProfsTer13
NM_001204798.2:c.1366_1369del	NP_001191727.1:p.Val456ProfsTer26
NM_172057.3:c.1366_1369del	NP_742054.1:p.Val456ProfsTer13