Canonical Allele Identifier: CA009009
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67547
dbSNP Id: rs199472885

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957485G>A , CM000669.2:g.150957485G>A GRCh38
NC_000007.13:g.150654573G>A , CM000669.1:g.150654573G>A GRCh37
NC_000007.12:g.150285506G>A NCBI36
NG_008916.1:g.25442C>T , LRG_288:g.25442C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1767C>T
ENST00000262186.10:c.934C>T MANE Select ENSP00000262186.5:p.Arg312Cys
ENST00000262186.9:c.934C>T ENSP00000262186.5:p.Arg312Cys
ENST00000430723.4:c.586C>T ENSP00000387657.4:p.Arg196Cys
ENST00000532957.5:n.1157C>T
NM_000238.3:c.934C>T , LRG_288t1:c.934C>T NP_000229.1:p.Arg312Cys
NM_172056.2:c.934C>T , LRG_288t2:c.934C>T NP_742053.1:p.Arg312Cys
XM_011516185.1:c.634C>T XP_011514487.1:p.Arg212Cys
XM_011516186.1:c.934C>T XP_011514488.1:p.Arg312Cys
XM_011516185.2:c.634C>T XP_011514487.1:p.Arg212Cys
XM_011516186.3:c.934C>T XP_011514488.1:p.Arg312Cys
XM_017012195.1:c.784C>T XP_016867684.1:p.Arg262Cys
XM_017012196.1:c.757C>T XP_016867685.1:p.Arg253Cys
NM_000238.4:c.934C>T MANE Select NP_000229.1:p.Arg312Cys