Canonical Allele Identifier: CA369856279
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950278G>T , CM000669.2:g.150950278G>T GRCh38
NC_000007.13:g.150647366G>T , CM000669.1:g.150647366G>T GRCh37
NC_000007.12:g.150278299G>T NCBI36
NG_008916.1:g.32649C>A , LRG_288:g.32649C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1586C>A
ENST00000684241.1:n.3121C>A
ENST00000262186.10:c.2288C>A MANE Select ENSP00000262186.5:p.Ala763Glu
ENST00000330883.9:c.1268C>A ENSP00000328531.4:p.Ala423Glu
ENST00000262186.9:c.2288C>A ENSP00000262186.5:p.Ala763Glu
ENST00000330883.8:c.1268C>A ENSP00000328531.4:p.Ala423Glu
ENST00000430723.4:c.1940C>A ENSP00000387657.4:p.Ala647Glu
ENST00000461280.1:n.1575C>A
ENST00000473610.5:n.1920C>A
ENST00000532957.5:n.2511C>A
NM_000238.3:c.2288C>A , LRG_288t1:c.2288C>A NP_000229.1:p.Ala763Glu
NM_001204798.1:c.1268C>A NP_001191727.1:p.Ala423Glu
NM_172056.2:c.2288C>A , LRG_288t2:c.2288C>A NP_742053.1:p.Ala763Glu
NM_172057.2:c.1268C>A , LRG_288t3:c.1268C>A NP_742054.1:p.Ala423Glu
XM_011516185.1:c.1988C>A XP_011514487.1:p.Ala663Glu
XM_011516186.1:c.2288C>A XP_011514488.1:p.Ala763Glu
XM_011516185.2:c.1988C>A XP_011514487.1:p.Ala663Glu
XM_011516186.3:c.2288C>A XP_011514488.1:p.Ala763Glu
XM_017012195.1:c.2138C>A XP_016867684.1:p.Ala713Glu
XM_017012196.1:c.2111C>A XP_016867685.1:p.Ala704Glu
NM_000238.4:c.2288C>A MANE Select NP_000229.1:p.Ala763Glu
NM_001204798.2:c.1268C>A NP_001191727.1:p.Ala423Glu
NM_172057.3:c.1268C>A NP_742054.1:p.Ala423Glu