HBA1 hemoglobin subunit alpha 1

Information
Symbol
HBA1
Type
protein-coding
Description
hemoglobin subunit alpha 1
Entrez Gene ID
3039
Genome
hg19
Position
chr16:226,679-227,521
Genome
hg38
Position
chr16:176,680-177,522
MIM
141800 OMIM
HGNC
HGNC:4823 HGNC
Ensembl
ENSG00000206172 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 40
Likely pathogenic 0 34
Benign 0 12
Likely benign 0 54
Conflicting classifications of pathogenicity 0 26
no classification for the single variant 0 2
not provided 0 4
other 0 272
Pathogenic; other 0 20
Uncertain significance 0 82
Ranking
ClinVar
0
0
58
144
300
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 ECYT7
SYNONYM HBA-T3
SYNONYM HBH
SYNONYM METHBA
MIM 141800 OMIM
HGNC HGNC:4823 HGNC
Ensembl ENSG00000206172 Ensembl
AllianceGenome HGNC:4823
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000397797.1 hg38 chr16 176,704 177,522 819
ENST00000320868.9 hg38 chr16 176,680 177,522 843
ENST00000320868.9 hg19 chr16 226,679 227,521 843
ENST00000397797.1 hg19 chr16 226,703 227,521 819
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