CNN1 calponin 1

Information
Symbol
CNN1
Type
protein-coding
Description
calponin 1
Entrez Gene ID
1264
Genome
hg19
Position
chr19:11,649,666-11,661,138
Genome
hg38
Position
chr19:11,538,851-11,550,323
MIM
600806 OMIM
HGNC
HGNC:2155 HGNC
Ensembl
ENSG00000130176 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 44
Ranking
ClinVar
0
0
0
46
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM HEL-S-14
SYNONYM SMCC
SYNONYM Sm-Calp
MIM 600806 OMIM
HGNC HGNC:2155 HGNC
Ensembl ENSG00000130176 Ensembl
AllianceGenome HGNC:2155
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000252456.7 hg38 chr19 11,538,851 11,550,323 11,473
ENST00000592923.5 hg38 chr19 11,538,767 11,550,322 11,556
ENST00000535659.6 hg38 chr19 11,538,775 11,550,000 11,226
ENST00000592923.5 hg19 chr19 11,649,582 11,661,137 11,556
ENST00000535659.6 hg19 chr19 11,649,590 11,660,815 11,226
ENST00000252456.7 hg19 chr19 11,649,666 11,661,138 11,473
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