EDN1 endothelin 1

Information
Symbol
EDN1
Type
protein-coding
Description
endothelin 1
Entrez Gene ID
1906
Genome
hg19
Position
chr6:12,290,594-12,297,427
Genome
hg38
Position
chr6:12,290,361-12,297,194
MIM
131240 OMIM
HGNC
HGNC:3176 HGNC
Ensembl
ENSG00000078401 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Benign 0 26
Likely benign 0 14
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 36
Ranking
ClinVar
0
0
8
68
8
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 ARCND3
SYNONYM ET1
SYNONYM HDLCQ7
SYNONYM PPET1
SYNONYM QME
MIM 131240 OMIM
HGNC HGNC:3176 HGNC
Ensembl ENSG00000078401 Ensembl
AllianceGenome HGNC:3176
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379375.6 hg38 chr6 12,290,361 12,297,194 6,834
ENST00000379375.6 hg19 chr6 12,290,594 12,297,427 6,834
Genome browser