Canonical Allele Identifier: CA005035
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14420
dbSNP Id: rs121912504

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951711G>A , CM000669.2:g.150951711G>A GRCh38
NC_000007.13:g.150648799G>A , CM000669.1:g.150648799G>A GRCh37
NC_000007.12:g.150279732G>A NCBI36
NG_008916.1:g.31216C>T , LRG_288:g.31216C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.9:c.1682C>T ENSP00000262186.5:p.Ala561Val
ENST00000330883.8:c.662C>T ENSP00000328531.4:p.Ala221Val
ENST00000430723.4:c.1334C>T ENSP00000387657.4:p.Ala445Val
NM_000238.3:c.1682C>T , LRG_288t1:c.1682C>T NP_000229.1:p.Ala561Val
NM_001204798.1:c.662C>T NP_001191727.1:p.Ala221Val
NM_172056.2:c.1682C>T , LRG_288t2:c.1682C>T NP_742053.1:p.Ala561Val
NM_172057.2:c.662C>T , LRG_288t3:c.662C>T NP_742054.1:p.Ala221Val
XM_011516185.1:c.1382C>T XP_011514487.1:p.Ala461Val
XM_011516186.1:c.1682C>T XP_011514488.1:p.Ala561Val
XM_011516185.2:c.1382C>T XP_011514487.1:p.Ala461Val
XM_011516186.3:c.1682C>T XP_011514488.1:p.Ala561Val
XM_017012195.1:c.1532C>T XP_016867684.1:p.Ala511Val
XM_017012196.1:c.1505C>T XP_016867685.1:p.Ala502Val
NM_000238.4:c.1682C>T MANE Select NP_000229.1:p.Ala561Val
NM_001204798.2:c.662C>T NP_001191727.1:p.Ala221Val
NM_172057.3:c.662C>T NP_742054.1:p.Ala221Val