Canonical Allele Identifier: CA006738
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200652
ClinVar RCV Id: RCV000181983
dbSNP Id: rs794728445
MyVariant Identifiers: chr7:g.150646117del (hg19) chr7:g.150949029del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150949032del , CM000669.2:g.150949032del GRCh38
NC_000007.13:g.150646120del , CM000669.1:g.150646120del GRCh37
NC_000007.12:g.150277053del NCBI36
NG_008916.1:g.33898del , LRG_288:g.33898del

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3252del
ENST00000262186.10:c.2419del MANE Select ENSP00000262186.5:p.Glu807SerfsTer3
ENST00000330883.9:c.1399del ENSP00000328531.4:p.Glu467SerfsTer3
ENST00000262186.9:c.2419del ENSP00000262186.5:p.Glu807SerfsTer3
ENST00000330883.8:c.1399del ENSP00000328531.4:p.Glu467SerfsTer3
NM_000238.3:c.2419del , LRG_288t1:c.2419del NP_000229.1:p.Glu807SerfsTer3
NM_172057.2:c.1399del , LRG_288t3:c.1399del NP_742054.1:p.Glu467SerfsTer3
XM_011516185.1:c.2119del XP_011514487.1:p.Glu707SerfsTer3
XM_011516186.1:c.2419del XP_011514488.1:p.Glu807SerfsTer3
XM_011516185.2:c.2119del XP_011514487.1:p.Glu707SerfsTer3
XM_011516186.3:c.2419del XP_011514488.1:p.Glu807SerfsTer3
XM_017012195.1:c.2269del XP_016867684.1:p.Glu757SerfsTer3
XM_017012196.1:c.2242del XP_016867685.1:p.Glu748SerfsTer3
NM_000238.4:c.2419del MANE Select NP_000229.1:p.Glu807SerfsTer3
NM_172057.3:c.1399del NP_742054.1:p.Glu467SerfsTer3
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