ASIC1 acid sensing ion channel subunit 1

Information
Symbol
ASIC1
Type
protein-coding
Description
acid sensing ion channel subunit 1
Entrez Gene ID
41
Genome
hg19
Position
chr12:50,451,331-50,477,394
Genome
hg38
Position
chr12:50,057,548-50,083,611
MIM
602866 OMIM
HGNC
HGNC:100 HGNC
Ensembl
ENSG00000110881 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 2
Uncertain significance 0 44
Ranking
ClinVar
0
0
0
56
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 ACCN2
SYNONYM ASIC
SYNONYM BNaC2
MIM 602866 OMIM
HGNC HGNC:100 HGNC
Ensembl ENSG00000110881 Ensembl
AllianceGenome HGNC:100
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000552438.5 hg38 chr12 50,073,575 50,083,277 9,703
ENST00000228468.8 hg38 chr12 50,057,548 50,083,611 26,064
ENST00000447966.7 hg38 chr12 50,057,596 50,083,611 26,016
ENST00000228468.8 hg19 chr12 50,451,331 50,477,394 26,064
ENST00000447966.7 hg19 chr12 50,451,379 50,477,394 26,016
ENST00000552438.5 hg19 chr12 50,467,358 50,477,060 9,703
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