Canonical Allele Identifier: CA369853543
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947863C>T , CM000669.2:g.150947863C>T GRCh38
NC_000007.13:g.150644951C>T , CM000669.1:g.150644951C>T GRCh37
NC_000007.12:g.150275884C>T NCBI36
NG_008916.1:g.35064G>A , LRG_288:g.35064G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3541G>A
ENST00000262186.10:c.2708G>A MANE Select ENSP00000262186.5:p.Gly903Glu
ENST00000330883.9:c.1688G>A ENSP00000328531.4:p.Gly563Glu
ENST00000262186.9:c.2708G>A ENSP00000262186.5:p.Gly903Glu
ENST00000330883.8:c.1688G>A ENSP00000328531.4:p.Gly563Glu
NM_000238.3:c.2708G>A , LRG_288t1:c.2708G>A NP_000229.1:p.Gly903Glu
NM_172057.2:c.1688G>A , LRG_288t3:c.1688G>A NP_742054.1:p.Gly563Glu
XM_011516185.1:c.2408G>A XP_011514487.1:p.Gly803Glu
XM_011516186.1:c.2693-172G>A XP_011514488.1:n.2693-172G>A
XM_011516185.2:c.2408G>A XP_011514487.1:p.Gly803Glu
XM_011516186.3:c.2693-172G>A XP_011514488.1:n.2693-172G>A
XM_017012195.1:c.2558G>A XP_016867684.1:p.Gly853Glu
XM_017012196.1:c.2531G>A XP_016867685.1:p.Gly844Glu
NM_000238.4:c.2708G>A MANE Select NP_000229.1:p.Gly903Glu
NM_172057.3:c.1688G>A NP_742054.1:p.Gly563Glu