EDN3 endothelin 3

Information
Symbol
EDN3
Type
protein-coding
Description
endothelin 3
Entrez Gene ID
1908
Genome
hg19
Position
chr20:57,875,666-57,901,047
Genome
hg38
Position
chr20:59,300,611-59,325,992
MIM
131242 OMIM
HGNC
HGNC:3178 HGNC
Ensembl
ENSG00000124205 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 10
Likely pathogenic 2 4
Benign 0 36
Likely benign 0 78
Conflicting classifications of pathogenicity 0 8
risk factor 0 2
Uncertain significance 0 174
Ranking
ClinVar
0
0
34
250
12
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 ET-3
SYNONYM ET3
SYNONYM HSCR4
SYNONYM PPET3
SYNONYM WS4B
MIM 131242 OMIM
HGNC HGNC:3178 HGNC
Ensembl ENSG00000124205 Ensembl
AllianceGenome HGNC:3178
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000337938.7 hg38 chr20 59,300,611 59,325,992 25,382
ENST00000644821.1 hg38 chr20 59,300,547 59,325,962 25,416
ENST00000371025.7 hg38 chr20 59,300,618 59,324,746 24,129
ENST00000371028.6 hg38 chr20 59,300,444 59,325,991 25,548
ENST00000395654.3 hg38 chr20 59,300,703 59,325,992 25,290
ENST00000311585.11 hg38 chr20 59,300,443 59,325,992 25,550
ENST00000311585.11 hg19 chr20 57,875,498 57,901,047 25,550
ENST00000371028.6 hg19 chr20 57,875,499 57,901,046 25,548
ENST00000644821.1 hg19 chr20 57,875,602 57,901,017 25,416
ENST00000337938.7 hg19 chr20 57,875,666 57,901,047 25,382
ENST00000371025.7 hg19 chr20 57,875,673 57,899,801 24,129
ENST00000395654.3 hg19 chr20 57,875,758 57,901,047 25,290
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