Canonical Allele Identifier: CA835201340

Gene: KCNH2

Linked Data

• dbSNP Id: rs1173858363
• gnomAD v3: 7-150955626-AGAGCAGCCCCT-A
• gnomAD v4: 7-150955626-AGAGCAGCCCCT-A
• MyVariant Identifiers: chr7:g.150652715_150652725del (hg19) ; chr7:g.150955627_150955637del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955628_150955638del , CM000669.2:g.150955628_150955638del	GRCh38
NC_000007.13:g.150652716_150652726del , CM000669.1:g.150652716_150652726del	GRCh37
NC_000007.12:g.150283649_150283659del	NCBI36
NG_008916.1:g.27290_27300del , LRG_288:g.27290_27300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.185_195del
ENST00000684241.1:n.1961+1654_1961+1664del
ENST00000262186.10:c.1128+1654_1128+1664del MANE Select	ENSP00000262186.5:n.1128+1654_1128+1664del
ENST00000330883.9:c.-134_-124del	ENSP00000328531.4:n.-134_-124del
ENST00000262186.9:c.1128+1654_1128+1664del	ENSP00000262186.5:n.1128+1654_1128+1664del
ENST00000330883.8:c.-134_-124del	ENSP00000328531.4:n.-134_-124del
ENST00000430723.4:c.780+1654_780+1664del	ENSP00000387657.4:n.780+1654_780+1664del
ENST00000461280.1:n.174_184del
ENST00000473610.5:n.192_202del
ENST00000532957.5:n.1351+1654_1351+1664del
NM_000238.3:c.1128+1654_1128+1664del , LRG_288t1:c.1128+1654_1128+1664del	NP_000229.1:n.1128+1654_1128+1664del
NM_001204798.1:c.-134_-124del	NP_001191727.1:n.-134_-124del
NM_172056.2:c.1128+1654_1128+1664del , LRG_288t2:c.1128+1654_1128+1664del	NP_742053.1:n.1128+1654_1128+1664del
NM_172057.2:c.-134_-124del , LRG_288t3:c.-134_-124del	NP_742054.1:n.-134_-124del
XM_011516185.1:c.828+1654_828+1664del	XP_011514487.1:n.828+1654_828+1664del
XM_011516186.1:c.1128+1654_1128+1664del	XP_011514488.1:n.1128+1654_1128+1664del
XM_011516185.2:c.828+1654_828+1664del	XP_011514487.1:n.828+1654_828+1664del
XM_011516186.3:c.1128+1654_1128+1664del	XP_011514488.1:n.1128+1654_1128+1664del
XM_017012195.1:c.978+1654_978+1664del	XP_016867684.1:n.978+1654_978+1664del
XM_017012196.1:c.951+1654_951+1664del	XP_016867685.1:n.951+1654_951+1664del
NM_000238.4:c.1128+1654_1128+1664del MANE Select	NP_000229.1:n.1128+1654_1128+1664del
NM_001204798.2:c.-134_-124del	NP_001191727.1:n.-134_-124del
NM_172057.3:c.-134_-124del	NP_742054.1:n.-134_-124del