HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1

Information
Symbol
HLA-DQA1
Type
protein-coding
Description
major histocompatibility complex, class II, DQ alpha 1
Entrez Gene ID
3117
Genome
hg19
Position
chr6:32,605,183-32,611,461
Genome
hg38
Position
chr6:32,637,406-32,643,684
MIM
146880 OMIM
HGNC
HGNC:4942 HGNC
Ensembl
ENSG00000196735 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 6
not provided 96 0
Ranking
ClinVar
0
0
0
12
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
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 CELIAC1
SYNONYM DQ-A1
SYNONYM DQA1
SYNONYM HLA-DQA
SYNONYM HLA-DQA1*
SYNONYM HLA-DQB1
MIM 146880 OMIM
HGNC HGNC:4942 HGNC
Ensembl ENSG00000196735 Ensembl
AllianceGenome HGNC:4942
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000395363.5 hg38 chr6 32,637,401 32,643,652 6,252
ENST00000374949.2 hg38 chr6 32,637,420 32,643,017 5,598
ENST00000343139.11 hg38 chr6 32,637,406 32,643,684 6,279
ENST00000395363.5 hg19 chr6 32,605,178 32,611,429 6,252
ENST00000343139.11 hg19 chr6 32,605,183 32,611,461 6,279
ENST00000374949.2 hg19 chr6 32,605,197 32,610,794 5,598
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