Canonical Allele Identifier: CA16042677
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372378
ClinVar RCV Id: RCV000414670
dbSNP Id: rs1057517743
MyVariant Identifiers: chr7:g.150644469del (hg19) chr7:g.150947381del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947382del , CM000669.2:g.150947382del GRCh38
NC_000007.13:g.150644470del , CM000669.1:g.150644470del GRCh37
NC_000007.12:g.150275403del NCBI36
NG_008916.1:g.35546del , LRG_288:g.35546del

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3932del
ENST00000262186.10:c.3099del MANE Select ENSP00000262186.5:p.Arg1035GlyfsTer22
ENST00000330883.9:c.2079del ENSP00000328531.4:p.Arg695GlyfsTer22
ENST00000262186.9:c.3099del ENSP00000262186.5:p.Arg1035GlyfsTer22
ENST00000330883.8:c.2079del ENSP00000328531.4:p.Arg695GlyfsTer22
NM_000238.3:c.3099del , LRG_288t1:c.3099del NP_000229.1:p.Arg1035GlyfsTer22
NM_172057.2:c.2079del , LRG_288t3:c.2079del NP_742054.1:p.Arg695GlyfsTer22
XM_011516185.1:c.2799del XP_011514487.1:p.Arg935GlyfsTer22
XM_011516185.2:c.2799del XP_011514487.1:p.Arg935GlyfsTer22
XM_017012195.1:c.2949del XP_016867684.1:p.Arg985GlyfsTer22
XM_017012196.1:c.2922del XP_016867685.1:p.Arg976GlyfsTer22
NM_000238.4:c.3099del MANE Select NP_000229.1:p.Arg1035GlyfsTer22
NM_172057.3:c.2079del NP_742054.1:p.Arg695GlyfsTer22
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