Canonical Allele Identifier: CA16618413
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418919
ClinVar RCV Id: RCV000480550
dbSNP Id: rs1064793523

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957372del , CM000669.2:g.150957372del GRCh38
NC_000007.13:g.150654460del , CM000669.1:g.150654460del GRCh37
NC_000007.12:g.150285393del NCBI36
NG_008916.1:g.25556del , LRG_288:g.25556del

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1881del
ENST00000262186.10:c.1048del MANE Select ENSP00000262186.5:p.Ala350LeufsTer10
ENST00000262186.9:c.1048del ENSP00000262186.5:p.Ala350LeufsTer10
ENST00000430723.4:c.700del ENSP00000387657.4:p.Ala234LeufsTer10
ENST00000532957.5:n.1271del
NM_000238.3:c.1048del , LRG_288t1:c.1048del NP_000229.1:p.Ala350LeufsTer10
NM_172056.2:c.1048del , LRG_288t2:c.1048del NP_742053.1:p.Ala350LeufsTer10
XM_011516185.1:c.748del XP_011514487.1:p.Ala250LeufsTer10
XM_011516186.1:c.1048del XP_011514488.1:p.Ala350LeufsTer10
XM_011516185.2:c.748del XP_011514487.1:p.Ala250LeufsTer10
XM_011516186.3:c.1048del XP_011514488.1:p.Ala350LeufsTer10
XM_017012195.1:c.898del XP_016867684.1:p.Ala300LeufsTer10
XM_017012196.1:c.871del XP_016867685.1:p.Ala291LeufsTer10
NM_000238.4:c.1048del MANE Select NP_000229.1:p.Ala350LeufsTer10