Canonical Allele Identifier: CA835200846

Gene: KCNH2

Linked Data

• dbSNP Id: rs1377735432
• gnomAD v3: 7-150955095-ATC-A
• gnomAD v4: 7-150955095-ATC-A
• MyVariant Identifiers: chr7:g.150652184_150652185del (hg19) ; chr7:g.150955096_150955097del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955101_150955102del , CM000669.2:g.150955101_150955102del	GRCh38
NC_000007.13:g.150652189_150652190del , CM000669.1:g.150652189_150652190del	GRCh37
NC_000007.12:g.150283122_150283123del	NCBI36
NG_008916.1:g.27830_27831del , LRG_288:g.27830_27831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.426+299_426+300del
ENST00000684241.1:n.1961+2194_1961+2195del
ENST00000262186.10:c.1128+2194_1128+2195del MANE Select	ENSP00000262186.5:n.1128+2194_1128+2195del
ENST00000330883.9:c.108+299_108+300del	ENSP00000328531.4:n.108+299_108+300del
ENST00000262186.9:c.1128+2194_1128+2195del	ENSP00000262186.5:n.1128+2194_1128+2195del
ENST00000330883.8:c.108+299_108+300del	ENSP00000328531.4:n.108+299_108+300del
ENST00000430723.4:c.780+2194_780+2195del	ENSP00000387657.4:n.780+2194_780+2195del
ENST00000461280.1:n.415+299_415+300del
ENST00000473610.5:n.433+299_433+300del
ENST00000532957.5:n.1351+2194_1351+2195del
NM_000238.3:c.1128+2194_1128+2195del , LRG_288t1:c.1128+2194_1128+2195del	NP_000229.1:n.1128+2194_1128+2195del
NM_001204798.1:c.108+299_108+300del	NP_001191727.1:n.108+299_108+300del
NM_172056.2:c.1128+2194_1128+2195del , LRG_288t2:c.1128+2194_1128+2195del	NP_742053.1:n.1128+2194_1128+2195del
NM_172057.2:c.108+299_108+300del , LRG_288t3:c.108+299_108+300del	NP_742054.1:n.108+299_108+300del
XM_011516185.1:c.828+2194_828+2195del	XP_011514487.1:n.828+2194_828+2195del
XM_011516186.1:c.1128+2194_1128+2195del	XP_011514488.1:n.1128+2194_1128+2195del
XM_011516185.2:c.828+2194_828+2195del	XP_011514487.1:n.828+2194_828+2195del
XM_011516186.3:c.1128+2194_1128+2195del	XP_011514488.1:n.1128+2194_1128+2195del
XM_017012195.1:c.978+2194_978+2195del	XP_016867684.1:n.978+2194_978+2195del
XM_017012196.1:c.951+2194_951+2195del	XP_016867685.1:n.951+2194_951+2195del
NM_000238.4:c.1128+2194_1128+2195del MANE Select	NP_000229.1:n.1128+2194_1128+2195del
NM_001204798.2:c.108+299_108+300del	NP_001191727.1:n.108+299_108+300del
NM_172057.3:c.108+299_108+300del	NP_742054.1:n.108+299_108+300del