Canonical Allele Identifier: CA007118
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 191470
dbSNP Id: rs201627778

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948462G>A , CM000669.2:g.150948462G>A GRCh38
NC_000007.13:g.150645550G>A , CM000669.1:g.150645550G>A GRCh37
NC_000007.12:g.150276483G>A NCBI36
NG_008916.1:g.34465C>T , LRG_288:g.34465C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3507C>T
ENST00000262186.10:c.2674C>T MANE Select ENSP00000262186.5:p.Arg892Cys
ENST00000330883.9:c.1654C>T ENSP00000328531.4:p.Arg552Cys
ENST00000262186.9:c.2674C>T ENSP00000262186.5:p.Arg892Cys
ENST00000330883.8:c.1654C>T ENSP00000328531.4:p.Arg552Cys
NM_000238.3:c.2674C>T , LRG_288t1:c.2674C>T NP_000229.1:p.Arg892Cys
NM_172057.2:c.1654C>T , LRG_288t3:c.1654C>T NP_742054.1:p.Arg552Cys
XM_011516185.1:c.2374C>T XP_011514487.1:p.Arg792Cys
XM_011516186.1:c.2674C>T XP_011514488.1:p.Arg892Cys
XM_011516185.2:c.2374C>T XP_011514487.1:p.Arg792Cys
XM_011516186.3:c.2674C>T XP_011514488.1:p.Arg892Cys
XM_017012195.1:c.2524C>T XP_016867684.1:p.Arg842Cys
XM_017012196.1:c.2497C>T XP_016867685.1:p.Arg833Cys
NM_000238.4:c.2674C>T MANE Select NP_000229.1:p.Arg892Cys
NM_172057.3:c.1654C>T NP_742054.1:p.Arg552Cys