Canonical Allele Identifier: CA004990
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200640
ClinVar RCV Id: RCV000181977
dbSNP Id: rs794728439
MyVariant Identifiers: chr7:g.150648805del (hg19) chr7:g.150951717del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951717del , CM000669.2:g.150951717del GRCh38
NC_000007.13:g.150648805del , CM000669.1:g.150648805del GRCh37
NC_000007.12:g.150279738del NCBI36
NG_008916.1:g.31210del , LRG_288:g.31210del

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.974del
ENST00000684241.1:n.2509del
ENST00000262186.10:c.1676del MANE Select ENSP00000262186.5:p.Leu559ProfsTer6
ENST00000330883.9:c.656del ENSP00000328531.4:p.Leu219ProfsTer6
ENST00000262186.9:c.1676del ENSP00000262186.5:p.Leu559ProfsTer6
ENST00000330883.8:c.656del ENSP00000328531.4:p.Leu219ProfsTer6
ENST00000430723.4:c.1328del ENSP00000387657.4:p.Leu443ProfsTer6
ENST00000461280.1:n.963del
ENST00000473610.5:n.981del
ENST00000532957.5:n.1899del
NM_000238.3:c.1676del , LRG_288t1:c.1676del NP_000229.1:p.Leu559ProfsTer6
NM_001204798.1:c.656del NP_001191727.1:p.Leu219ProfsTer6
NM_172056.2:c.1676del , LRG_288t2:c.1676del NP_742053.1:p.Leu559ProfsTer6
NM_172057.2:c.656del , LRG_288t3:c.656del NP_742054.1:p.Leu219ProfsTer6
XM_011516185.1:c.1376del XP_011514487.1:p.Leu459ProfsTer6
XM_011516186.1:c.1676del XP_011514488.1:p.Leu559ProfsTer6
XM_011516185.2:c.1376del XP_011514487.1:p.Leu459ProfsTer6
XM_011516186.3:c.1676del XP_011514488.1:p.Leu559ProfsTer6
XM_017012195.1:c.1526del XP_016867684.1:p.Leu509ProfsTer6
XM_017012196.1:c.1499del XP_016867685.1:p.Leu500ProfsTer6
NM_000238.4:c.1676del MANE Select NP_000229.1:p.Leu559ProfsTer6
NM_001204798.2:c.656del NP_001191727.1:p.Leu219ProfsTer6
NM_172057.3:c.656del NP_742054.1:p.Leu219ProfsTer6
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