Canonical Allele Identifier: CA005364
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67260
ClinVar RCV Id: RCV000057973
dbSNP Id: rs199473492

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974844C>G , CM000669.2:g.150974844C>G GRCh38
NC_000007.13:g.150671932C>G , CM000669.1:g.150671932C>G GRCh37
NC_000007.12:g.150302865C>G NCBI36
NG_008916.1:g.8083G>C , LRG_288:g.8083G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.174G>C MANE Select ENSP00000262186.5:p.Glu58Asp
ENST00000262186.9:c.174G>C ENSP00000262186.5:p.Glu58Asp
ENST00000430723.4:c.-4G>C ENSP00000387657.4:n.-4G>C
ENST00000532957.5:n.397G>C
NM_000238.3:c.174G>C , LRG_288t1:c.174G>C NP_000229.1:p.Glu58Asp
NM_172056.2:c.174G>C , LRG_288t2:c.174G>C NP_742053.1:p.Glu58Asp
XM_011516186.1:c.174G>C XP_011514488.1:p.Glu58Asp
XM_011516186.3:c.174G>C XP_011514488.1:p.Glu58Asp
XM_017012196.1:c.-4G>C XP_016867685.1:n.-4G>C
NM_000238.4:c.174G>C MANE Select NP_000229.1:p.Glu58Asp