Canonical Allele Identifier: CA369862069
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs2117002446

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958068C>T , CM000669.2:g.150958068C>T GRCh38
NC_000007.13:g.150655156C>T , CM000669.1:g.150655156C>T GRCh37
NC_000007.12:g.150286089C>T NCBI36
NG_008916.1:g.24859G>A , LRG_288:g.24859G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1740G>A
ENST00000262186.10:c.907G>A MANE Select ENSP00000262186.5:p.Ala303Thr
ENST00000262186.9:c.907G>A ENSP00000262186.5:p.Ala303Thr
ENST00000430723.4:c.559G>A ENSP00000387657.4:p.Ala187Thr
ENST00000532957.5:n.1130G>A
NM_000238.3:c.907G>A , LRG_288t1:c.907G>A NP_000229.1:p.Ala303Thr
NM_172056.2:c.907G>A , LRG_288t2:c.907G>A NP_742053.1:p.Ala303Thr
XM_011516185.1:c.607G>A XP_011514487.1:p.Ala203Thr
XM_011516186.1:c.907G>A XP_011514488.1:p.Ala303Thr
XM_011516185.2:c.607G>A XP_011514487.1:p.Ala203Thr
XM_011516186.3:c.907G>A XP_011514488.1:p.Ala303Thr
XM_017012195.1:c.757G>A XP_016867684.1:p.Ala253Thr
XM_017012196.1:c.730G>A XP_016867685.1:p.Ala244Thr
NM_000238.4:c.907G>A MANE Select NP_000229.1:p.Ala303Thr