Canonical Allele Identifier: CA16612199
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405355
ClinVar RCV Id: RCV003736775
dbSNP Id: rs1060500670
MyVariant Identifiers: chr7:g.150656730del (hg19) chr7:g.150959642del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959642del , CM000669.2:g.150959642del GRCh38
NC_000007.13:g.150656730del , CM000669.1:g.150656730del GRCh37
NC_000007.12:g.150287663del NCBI36
NG_008916.1:g.23285del , LRG_288:g.23285del

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1235del
ENST00000262186.10:c.402del MANE Select ENSP00000262186.5:p.Lys135ArgfsTer?
ENST00000262186.9:c.402del ENSP00000262186.5:p.Lys135ArgfsTer?
ENST00000430723.4:c.225del ENSP00000387657.4:p.Lys76ArgfsTer9
ENST00000532957.5:n.625del
NM_000238.3:c.402del , LRG_288t1:c.402del NP_000229.1:p.Lys135ArgfsTer?
NM_172056.2:c.402del , LRG_288t2:c.402del NP_742053.1:p.Lys135ArgfsTer?
XM_011516185.1:c.102del XP_011514487.1:p.Lys35ArgfsTer?
XM_011516186.1:c.402del XP_011514488.1:p.Lys135ArgfsTer?
XM_011516185.2:c.102del XP_011514487.1:p.Lys35ArgfsTer?
XM_011516186.3:c.402del XP_011514488.1:p.Lys135ArgfsTer?
XM_017012195.1:c.252del XP_016867684.1:p.Lys85ArgfsTer?
XM_017012196.1:c.225del XP_016867685.1:p.Lys76ArgfsTer?
NM_000238.4:c.402del MANE Select NP_000229.1:p.Lys135ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'