Canonical Allele Identifier: CA004434
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67183
dbSNP Id: rs199472900

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952689G>T , CM000669.2:g.150952689G>T GRCh38
NC_000007.13:g.150649777G>T , CM000669.1:g.150649777G>T GRCh37
NC_000007.12:g.150280710G>T NCBI36
NG_008916.1:g.30238C>A , LRG_288:g.30238C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.591C>A
ENST00000684116.1:n.186C>A
ENST00000684241.1:n.2126C>A
ENST00000262186.10:c.1293C>A MANE Select ENSP00000262186.5:p.Phe431Leu
ENST00000330883.9:c.273C>A ENSP00000328531.4:p.Phe91Leu
ENST00000262186.9:c.1293C>A ENSP00000262186.5:p.Phe431Leu
ENST00000330883.8:c.273C>A ENSP00000328531.4:p.Phe91Leu
ENST00000430723.4:c.945C>A ENSP00000387657.4:p.Phe315Leu
ENST00000461280.1:n.580C>A
ENST00000473610.5:n.598C>A
ENST00000532957.5:n.1516C>A
NM_000238.3:c.1293C>A , LRG_288t1:c.1293C>A NP_000229.1:p.Phe431Leu
NM_001204798.1:c.273C>A NP_001191727.1:p.Phe91Leu
NM_172056.2:c.1293C>A , LRG_288t2:c.1293C>A NP_742053.1:p.Phe431Leu
NM_172057.2:c.273C>A , LRG_288t3:c.273C>A NP_742054.1:p.Phe91Leu
XM_011516185.1:c.993C>A XP_011514487.1:p.Phe331Leu
XM_011516186.1:c.1293C>A XP_011514488.1:p.Phe431Leu
XM_011516185.2:c.993C>A XP_011514487.1:p.Phe331Leu
XM_011516186.3:c.1293C>A XP_011514488.1:p.Phe431Leu
XM_017012195.1:c.1143C>A XP_016867684.1:p.Phe381Leu
XM_017012196.1:c.1116C>A XP_016867685.1:p.Phe372Leu
NM_000238.4:c.1293C>A MANE Select NP_000229.1:p.Phe431Leu
NM_001204798.2:c.273C>A NP_001191727.1:p.Phe91Leu
NM_172057.3:c.273C>A NP_742054.1:p.Phe91Leu