Canonical Allele Identifier: CA369861729
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957439T>A , CM000669.2:g.150957439T>A GRCh38
NC_000007.13:g.150654527T>A , CM000669.1:g.150654527T>A GRCh37
NC_000007.12:g.150285460T>A NCBI36
NG_008916.1:g.25488A>T , LRG_288:g.25488A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1813A>T
ENST00000262186.10:c.980A>T MANE Select ENSP00000262186.5:p.Tyr327Phe
ENST00000262186.9:c.980A>T ENSP00000262186.5:p.Tyr327Phe
ENST00000430723.4:c.632A>T ENSP00000387657.4:p.Tyr211Phe
ENST00000532957.5:n.1203A>T
NM_000238.3:c.980A>T , LRG_288t1:c.980A>T NP_000229.1:p.Tyr327Phe
NM_172056.2:c.980A>T , LRG_288t2:c.980A>T NP_742053.1:p.Tyr327Phe
XM_011516185.1:c.680A>T XP_011514487.1:p.Tyr227Phe
XM_011516186.1:c.980A>T XP_011514488.1:p.Tyr327Phe
XM_011516185.2:c.680A>T XP_011514487.1:p.Tyr227Phe
XM_011516186.3:c.980A>T XP_011514488.1:p.Tyr327Phe
XM_017012195.1:c.830A>T XP_016867684.1:p.Tyr277Phe
XM_017012196.1:c.803A>T XP_016867685.1:p.Tyr268Phe
NM_000238.4:c.980A>T MANE Select NP_000229.1:p.Tyr327Phe