Canonical Allele Identifier: CA369856097
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950233G>A , CM000669.2:g.150950233G>A GRCh38
NC_000007.13:g.150647321G>A , CM000669.1:g.150647321G>A GRCh37
NC_000007.12:g.150278254G>A NCBI36
NG_008916.1:g.32694C>T , LRG_288:g.32694C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1631C>T
ENST00000684241.1:n.3166C>T
ENST00000262186.10:c.2333C>T MANE Select ENSP00000262186.5:p.Ala778Val
ENST00000330883.9:c.1313C>T ENSP00000328531.4:p.Ala438Val
ENST00000262186.9:c.2333C>T ENSP00000262186.5:p.Ala778Val
ENST00000330883.8:c.1313C>T ENSP00000328531.4:p.Ala438Val
ENST00000430723.4:c.1985C>T ENSP00000387657.4:p.Ala662Val
ENST00000461280.1:n.1620C>T
ENST00000473610.5:n.1965C>T
ENST00000532957.5:n.2556C>T
NM_000238.3:c.2333C>T , LRG_288t1:c.2333C>T NP_000229.1:p.Ala778Val
NM_001204798.1:c.1313C>T NP_001191727.1:p.Ala438Val
NM_172056.2:c.2333C>T , LRG_288t2:c.2333C>T NP_742053.1:p.Ala778Val
NM_172057.2:c.1313C>T , LRG_288t3:c.1313C>T NP_742054.1:p.Ala438Val
XM_011516185.1:c.2033C>T XP_011514487.1:p.Ala678Val
XM_011516186.1:c.2333C>T XP_011514488.1:p.Ala778Val
XM_011516185.2:c.2033C>T XP_011514487.1:p.Ala678Val
XM_011516186.3:c.2333C>T XP_011514488.1:p.Ala778Val
XM_017012195.1:c.2183C>T XP_016867684.1:p.Ala728Val
XM_017012196.1:c.2156C>T XP_016867685.1:p.Ala719Val
NM_000238.4:c.2333C>T MANE Select NP_000229.1:p.Ala778Val
NM_001204798.2:c.1313C>T NP_001191727.1:p.Ala438Val
NM_172057.3:c.1313C>T NP_742054.1:p.Ala438Val