Canonical Allele Identifier: CA8527230
Gene: FBXO47 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.38945127T>C
GRCh37 chr17:g.37101380T>C
Revel Score:
ENST00000378079 (MANE Select) 0.055
gnomAD v2:
17:37101380 T / C
gnomAD v3:
17:38945127 T / C
gnomAD v4:
chr17-38945127-T-C
Joint Max Group AF 0.99202075 (EAS)
Genomes Max Group AF 0.97784771 (AFR)
Exomes Max Group AF 0.99165241 (EAS)
ClinVar RCV:
RCV001649519
ClinVar Variation:
1247558
dbSNP:
9906595
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.38945127T>C , CM000679.2:g.38945127T>C GRCh38
NC_000017.10:g.37101380T>C , CM000679.1:g.37101380T>C GRCh37
NC_000017.9:g.34354906T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378079.3:c.626A>G MANE Select ENSP00000367319.2:p.Gln209Arg
ENST00000378079.2:c.626A>G ENSP00000367319.2:p.Gln209Arg
NM_001008777.2:c.626A>G NP_001008777.2:p.Gln209Arg
XM_011524864.1:c.626A>G XP_011523166.1:p.Gln209Arg
XM_011524865.1:c.548A>G XP_011523167.1:p.Gln183Arg
XM_011524866.1:c.455A>G XP_011523168.1:p.Gln152Arg
XM_011524867.1:c.626A>G XP_011523169.1:p.Gln209Arg
XM_011524865.2:c.548A>G XP_011523167.1:p.Gln183Arg
XM_011524866.3:c.455A>G XP_011523168.1:p.Gln152Arg
XM_011524867.2:c.626A>G XP_011523169.1:p.Gln209Arg
NM_001008777.3:c.626A>G MANE Select NP_001008777.2:p.Gln209Arg
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