HBE1 hemoglobin subunit epsilon 1

Information
Symbol
HBE1
Type
protein-coding
Description
hemoglobin subunit epsilon 1
Entrez Gene ID
3046
Genome
hg19
Position
chr11:5,289,575-5,526,882
Genome
hg38
Position
chr11:5,268,345-5,505,652
MIM
142100 OMIM
HGNC
HGNC:4830 HGNC
Ensembl
ENSG00000213931 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 40
Uncertain significance 0 382
Ranking
ClinVar
0
0
0
430
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 :
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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 HBE
MIM 142100 OMIM
HGNC HGNC:4830 HGNC
Ensembl ENSG00000213931 Ensembl
AllianceGenome HGNC:4830
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000396895.3 hg38 chr11 5,268,345 5,269,945 1,601
ENST00000292896.3 hg38 chr11 5,268,345 5,505,652 237,308
ENST00000380237.5 hg38 chr11 5,268,345 5,505,604 237,260
ENST00000396895.3 hg19 chr11 5,289,575 5,291,175 1,601
ENST00000380237.5 hg19 chr11 5,289,575 5,526,834 237,260
ENST00000292896.3 hg19 chr11 5,289,575 5,526,882 237,308
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