Canonical Allele Identifier: CA004968
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14444
dbSNP Id: rs121912516

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951721C>G , CM000669.2:g.150951721C>G GRCh38
NC_000007.13:g.150648809C>G , CM000669.1:g.150648809C>G GRCh37
NC_000007.12:g.150279742C>G NCBI36
NG_008916.1:g.31206G>C , LRG_288:g.31206G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.9:c.1672G>C ENSP00000262186.5:p.Ala558Pro
ENST00000330883.8:c.652G>C ENSP00000328531.4:p.Ala218Pro
ENST00000430723.4:c.1324G>C ENSP00000387657.4:p.Ala442Pro
NM_000238.3:c.1672G>C , LRG_288t1:c.1672G>C NP_000229.1:p.Ala558Pro
NM_001204798.1:c.652G>C NP_001191727.1:p.Ala218Pro
NM_172056.2:c.1672G>C , LRG_288t2:c.1672G>C NP_742053.1:p.Ala558Pro
NM_172057.2:c.652G>C , LRG_288t3:c.652G>C NP_742054.1:p.Ala218Pro
XM_011516185.1:c.1372G>C XP_011514487.1:p.Ala458Pro
XM_011516186.1:c.1672G>C XP_011514488.1:p.Ala558Pro
XM_011516185.2:c.1372G>C XP_011514487.1:p.Ala458Pro
XM_011516186.3:c.1672G>C XP_011514488.1:p.Ala558Pro
XM_017012195.1:c.1522G>C XP_016867684.1:p.Ala508Pro
XM_017012196.1:c.1495G>C XP_016867685.1:p.Ala499Pro
NM_000238.4:c.1672G>C MANE Select NP_000229.1:p.Ala558Pro
NM_001204798.2:c.652G>C NP_001191727.1:p.Ala218Pro
NM_172057.3:c.652G>C NP_742054.1:p.Ala218Pro