Canonical Allele Identifier: CA16618404
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418689
ClinVar RCV Id: RCV000480935
dbSNP Id: rs1064793368

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150949035del , CM000669.2:g.150949035del GRCh38
NC_000007.13:g.150646123del , CM000669.1:g.150646123del GRCh37
NC_000007.12:g.150277056del NCBI36
NG_008916.1:g.33894del , LRG_288:g.33894del

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3248del
ENST00000262186.10:c.2415del MANE Select ENSP00000262186.5:p.Phe805LeufsTer5
ENST00000330883.9:c.1395del ENSP00000328531.4:p.Phe465LeufsTer5
ENST00000262186.9:c.2415del ENSP00000262186.5:p.Phe805LeufsTer5
ENST00000330883.8:c.1395del ENSP00000328531.4:p.Phe465LeufsTer5
NM_000238.3:c.2415del , LRG_288t1:c.2415del NP_000229.1:p.Phe805LeufsTer5
NM_172057.2:c.1395del , LRG_288t3:c.1395del NP_742054.1:p.Phe465LeufsTer5
XM_011516185.1:c.2115del XP_011514487.1:p.Phe705LeufsTer5
XM_011516186.1:c.2415del XP_011514488.1:p.Phe805LeufsTer5
XM_011516185.2:c.2115del XP_011514487.1:p.Phe705LeufsTer5
XM_011516186.3:c.2415del XP_011514488.1:p.Phe805LeufsTer5
XM_017012195.1:c.2265del XP_016867684.1:p.Phe755LeufsTer5
XM_017012196.1:c.2238del XP_016867685.1:p.Phe746LeufsTer5
NM_000238.4:c.2415del MANE Select NP_000229.1:p.Phe805LeufsTer5
NM_172057.3:c.1395del NP_742054.1:p.Phe465LeufsTer5