Canonical Allele Identifier: CA369855378
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150949038T>A , CM000669.2:g.150949038T>A GRCh38
NC_000007.13:g.150646126T>A , CM000669.1:g.150646126T>A GRCh37
NC_000007.12:g.150277059T>A NCBI36
NG_008916.1:g.33889A>T , LRG_288:g.33889A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3243A>T
ENST00000262186.10:c.2410A>T MANE Select ENSP00000262186.5:p.Ile804Phe
ENST00000330883.9:c.1390A>T ENSP00000328531.4:p.Ile464Phe
ENST00000262186.9:c.2410A>T ENSP00000262186.5:p.Ile804Phe
ENST00000330883.8:c.1390A>T ENSP00000328531.4:p.Ile464Phe
NM_000238.3:c.2410A>T , LRG_288t1:c.2410A>T NP_000229.1:p.Ile804Phe
NM_172057.2:c.1390A>T , LRG_288t3:c.1390A>T NP_742054.1:p.Ile464Phe
XM_011516185.1:c.2110A>T XP_011514487.1:p.Ile704Phe
XM_011516186.1:c.2410A>T XP_011514488.1:p.Ile804Phe
XM_011516185.2:c.2110A>T XP_011514487.1:p.Ile704Phe
XM_011516186.3:c.2410A>T XP_011514488.1:p.Ile804Phe
XM_017012195.1:c.2260A>T XP_016867684.1:p.Ile754Phe
XM_017012196.1:c.2233A>T XP_016867685.1:p.Ile745Phe
NM_000238.4:c.2410A>T MANE Select NP_000229.1:p.Ile804Phe
NM_172057.3:c.1390A>T NP_742054.1:p.Ile464Phe