Canonical Allele Identifier: CA16618402
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418787
dbSNP Id: rs1064793434

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948980del , CM000669.2:g.150948980del GRCh38
NC_000007.13:g.150646068del , CM000669.1:g.150646068del GRCh37
NC_000007.12:g.150277001del NCBI36
NG_008916.1:g.33949del , LRG_288:g.33949del

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3303del
ENST00000262186.10:c.2470del MANE Select ENSP00000262186.5:p.Ala824ProfsTer?
ENST00000330883.9:c.1450del ENSP00000328531.4:p.Ala484ProfsTer?
ENST00000262186.9:c.2470del ENSP00000262186.5:p.Ala824ProfsTer?
ENST00000330883.8:c.1450del ENSP00000328531.4:p.Ala484ProfsTer?
NM_000238.3:c.2470del , LRG_288t1:c.2470del NP_000229.1:p.Ala824ProfsTer?
NM_172057.2:c.1450del , LRG_288t3:c.1450del NP_742054.1:p.Ala484ProfsTer?
XM_011516185.1:c.2170del XP_011514487.1:p.Ala724ProfsTer?
XM_011516186.1:c.2470del XP_011514488.1:p.Ala824ProfsTer?
XM_011516185.2:c.2170del XP_011514487.1:p.Ala724ProfsTer?
XM_011516186.3:c.2470del XP_011514488.1:p.Ala824ProfsTer?
XM_017012195.1:c.2320del XP_016867684.1:p.Ala774ProfsTer?
XM_017012196.1:c.2293del XP_016867685.1:p.Ala765ProfsTer?
NM_000238.4:c.2470del MANE Select NP_000229.1:p.Ala824ProfsTer?
NM_172057.3:c.1450del NP_742054.1:p.Ala484ProfsTer?