The EDNRA gene homepage

General information
Gene symbol EDNRA
Gene name endothelin receptor type A
Chromosome 4
Chromosomal band q31.22
Imprinted Unknown
Genomic reference NG_013343.1
Transcript reference NM_001166055.1, NM_001256283.1, NM_001957.3, NR_045958.1
Associated with diseases MFDA, Migraine
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 101
Unique public DNA variants reported 7
Individuals with public variants 35
Hidden variants 21
Date created November 30, -0001
Date last updated September 28, 2016
Version EDNRA:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:3179
Entrez Gene 1909
PubMed articles EDNRA
OMIM - Gene 131243
OMIM - Diseases MFDA (Mandibulofacial dysostosis with alopecia (MFDA))
Migraine


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011291 4 transcript variant 1 NM_001957.3 NP_001948.1 101
00011293 4 transcript variant 3 NM_001256283.1 NP_001243212.1 101
00011292 4 transcript variant 2 NM_001166055.1 NP_001159527.1 91
00044543 4 transcript variant 4 NR_045958.1 - -