Canonical Allele Identifier: CA004171
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200624
ClinVar RCV Id: RCV000181969
dbSNP Id: rs794728431
MyVariant Identifiers: chr7:g.150654493del (hg19) chr7:g.150957405del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957405del , CM000669.2:g.150957405del GRCh38
NC_000007.13:g.150654493del , CM000669.1:g.150654493del GRCh37
NC_000007.12:g.150285426del NCBI36
NG_008916.1:g.25522del , LRG_288:g.25522del

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1847del
ENST00000262186.10:c.1014del MANE Select ENSP00000262186.5:p.Asn339ThrfsTer21
ENST00000262186.9:c.1014del ENSP00000262186.5:p.Asn339ThrfsTer21
ENST00000430723.4:c.666del ENSP00000387657.4:p.Asn223ThrfsTer21
ENST00000532957.5:n.1237del
NM_000238.3:c.1014del , LRG_288t1:c.1014del NP_000229.1:p.Asn339ThrfsTer21
NM_172056.2:c.1014del , LRG_288t2:c.1014del NP_742053.1:p.Asn339ThrfsTer21
XM_011516185.1:c.714del XP_011514487.1:p.Asn239ThrfsTer21
XM_011516186.1:c.1014del XP_011514488.1:p.Asn339ThrfsTer21
XM_011516185.2:c.714del XP_011514487.1:p.Asn239ThrfsTer21
XM_011516186.3:c.1014del XP_011514488.1:p.Asn339ThrfsTer21
XM_017012195.1:c.864del XP_016867684.1:p.Asn289ThrfsTer21
XM_017012196.1:c.837del XP_016867685.1:p.Asn280ThrfsTer21
NM_000238.4:c.1014del MANE Select NP_000229.1:p.Asn339ThrfsTer21
Search 100 bp 5'
Search 100 bp 3'