Canonical Allele Identifier: CA16612314
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405348
ClinVar RCV Id: RCV000475454
dbSNP Id: rs1060500667

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150955499G>A , CM000669.2:g.150955499G>A GRCh38
NC_000007.13:g.150652587G>A , CM000669.1:g.150652587G>A GRCh37
NC_000007.12:g.150283520G>A NCBI36
NG_008916.1:g.27428C>T , LRG_288:g.27428C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.323C>T
ENST00000684241.1:n.1961+1792C>T
ENST00000262186.10:c.1128+1792C>T MANE Select ENSP00000262186.5:n.1128+1792C>T
ENST00000330883.9:c.5C>T ENSP00000328531.4:p.Ala2Val
ENST00000262186.9:c.1128+1792C>T ENSP00000262186.5:n.1128+1792C>T
ENST00000330883.8:c.5C>T ENSP00000328531.4:p.Ala2Val
ENST00000430723.4:c.780+1792C>T ENSP00000387657.4:n.780+1792C>T
ENST00000461280.1:n.312C>T
ENST00000473610.5:n.330C>T
ENST00000532957.5:n.1351+1792C>T
NM_000238.3:c.1128+1792C>T , LRG_288t1:c.1128+1792C>T NP_000229.1:n.1128+1792C>T
NM_001204798.1:c.5C>T NP_001191727.1:p.Ala2Val
NM_172056.2:c.1128+1792C>T , LRG_288t2:c.1128+1792C>T NP_742053.1:n.1128+1792C>T
NM_172057.2:c.5C>T , LRG_288t3:c.5C>T NP_742054.1:p.Ala2Val
XM_011516185.1:c.828+1792C>T XP_011514487.1:n.828+1792C>T
XM_011516186.1:c.1128+1792C>T XP_011514488.1:n.1128+1792C>T
XM_011516185.2:c.828+1792C>T XP_011514487.1:n.828+1792C>T
XM_011516186.3:c.1128+1792C>T XP_011514488.1:n.1128+1792C>T
XM_017012195.1:c.978+1792C>T XP_016867684.1:n.978+1792C>T
XM_017012196.1:c.951+1792C>T XP_016867685.1:n.951+1792C>T
NM_000238.4:c.1128+1792C>T MANE Select NP_000229.1:n.1128+1792C>T
NM_001204798.2:c.5C>T NP_001191727.1:p.Ala2Val
NM_172057.3:c.5C>T NP_742054.1:p.Ala2Val