C4B complement C4B (Chido/Rodgers blood group)

Information
Symbol
C4B
Type
protein-coding
Description
complement C4B (Chido/Rodgers blood group)
Entrez Gene ID
721
Genome
hg19
Position
chr6:31,982,572-32,003,195
Genome
hg38
Position
chr6:32,014,795-32,035,418
MIM
120820 OMIM
HGNC
HGNC:1324 HGNC
Ensembl
ENSG00000224389 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 12
Likely benign 0 6
Uncertain significance 0 52
Ranking
ClinVar
0
0
2
66
2
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 :
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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 C4B1
SYNONYM C4B12
SYNONYM C4B2
SYNONYM C4B3
SYNONYM C4B5
SYNONYM C4BD
SYNONYM C4B_2
SYNONYM C4F
SYNONYM CH
SYNONYM CO4
SYNONYM CPAMD3
MIM 120820 OMIM
HGNC HGNC:1324 HGNC
Ensembl ENSG00000224389 Ensembl
AllianceGenome HGNC:1324
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000425700.3 hg38 chr6 32,014,846 32,035,417 20,572
ENST00000435363.7 hg38 chr6 32,014,795 32,035,418 20,624
ENST00000425700.3 hg19 chr6 31,982,623 32,003,194 20,572
ENST00000435363.7 hg19 chr6 31,982,572 32,003,195 20,624
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