KRT40 keratin 40

Information
Symbol
KRT40
Type
protein-coding
Description
keratin 40
Entrez Gene ID
125115
Genome
hg19
Position
chr17:39,133,967-39,143,275
Genome
hg38
Position
chr17:40,977,715-40,987,023
MIM
616679 OMIM
HGNC
HGNC:26707 HGNC
Ensembl
ENSG00000204889 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 62
Ranking
ClinVar
0
0
0
66
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 CK-40
SYNONYM K40
SYNONYM KA36
MIM 616679 OMIM
HGNC HGNC:26707 HGNC
Ensembl ENSG00000204889 Ensembl
AllianceGenome HGNC:26707
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000684280.1 hg38 chr17 40,977,715 40,987,023 9,309
ENST00000398486.2 hg38 chr17 40,977,882 40,987,135 9,254
ENST00000377755.9 hg38 chr17 40,977,715 40,984,326 6,612
ENST00000377755.9 hg19 chr17 39,133,967 39,140,578 6,612
ENST00000684280.1 hg19 chr17 39,133,967 39,143,275 9,309
ENST00000398486.2 hg19 chr17 39,134,134 39,143,387 9,254
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