ACTC1 actin alpha cardiac muscle 1

Information
Symbol
ACTC1
Type
protein-coding
Description
actin alpha cardiac muscle 1
Entrez Gene ID
70
Genome
hg19
Position
chr15:35,082,451-35,087,544
Genome
hg38
Position
chr15:34,790,250-34,795,343
MIM
102540 OMIM
HGNC
HGNC:143 HGNC
Ensembl
ENSG00000159251 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 18
Likely pathogenic 2 26
Benign 0 86
Likely benign 0 484
Conflicting classifications of pathogenicity 0 68
Uncertain significance 0 632
Ranking
ClinVar
0
0
388
794
26
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 ACTC
SYNONYM ASD5
SYNONYM CMD1R
SYNONYM CMH11
SYNONYM LVNC4
MIM 102540 OMIM
HGNC HGNC:143 HGNC
Ensembl ENSG00000159251 Ensembl
AllianceGenome HGNC:143
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000290378.6 hg38 chr15 34,790,230 34,795,549 5,320
ENST00000713613.1 hg38 chr15 34,790,225 34,795,549 5,325
ENST00000713615.1 hg38 chr15 34,790,230 34,795,549 5,320
ENST00000713616.1 hg38 chr15 34,790,230 34,795,549 5,320
ENST00000713610.1 hg38 chr15 34,790,250 34,795,343 5,094
ENST00000713613.1 hg19 chr15 35,082,426 35,087,750 5,325
ENST00000290378.6 hg19 chr15 35,082,431 35,087,750 5,320
ENST00000713615.1 hg19 chr15 35,082,431 35,087,750 5,320
ENST00000713616.1 hg19 chr15 35,082,431 35,087,750 5,320
ENST00000713610.1 hg19 chr15 35,082,451 35,087,544 5,094
Genome browser