Canonical Allele Identifier: CA346764646
Gene: FBXO11 HGNC NCBI

Linked Data

ClinVar Variation Id: 559600
ClinVar RCV Id: RCV000677377 RCV001291312
dbSNP Id: rs1553338592
gnomAD v4: 2-47823147-T-C
MyVariant Identifiers: chr2:g.48050286T>C (hg19) chr2:g.47823147T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47823147T>C , CM000664.2:g.47823147T>C GRCh38
NC_000002.11:g.48050286T>C , CM000664.1:g.48050286T>C GRCh37
NC_000002.10:g.47903790T>C NCBI36
NG_008397.1:g.87529A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000681999.1:n.1489A>G
ENST00000682451.1:n.1458A>G
ENST00000682975.1:n.1507A>G
ENST00000683894.1:c.1360A>G ENSP00000507789.1:p.Ile454Val
ENST00000684085.1:n.1489A>G
ENST00000684712.1:n.1720A>G
ENST00000403359.8:c.1612A>G MANE Select ENSP00000384823.4:p.Ile538Val
ENST00000316377.8:c.1378A>G ENSP00000323822.5:p.Ile460Val
ENST00000402508.5:c.1360A>G ENSP00000385398.1:p.Ile454Val
ENST00000403359.7:c.1612A>G ENSP00000384823.3:p.Ile538Val
ENST00000492225.5:n.1460A>G
ENST00000493962.6:c.986A>G
NM_001190274.1:c.1612A>G NP_001177203.1:p.Ile538Val
NM_025133.4:c.1360A>G NP_079409.3:p.Ile454Val
XM_005264572.3:c.1612A>G XP_005264629.1:p.Ile538Val
XM_005264573.3:c.1609A>G XP_005264630.1:p.Ile537Val
XM_005264572.5:c.1612A>G XP_005264629.1:p.Ile538Val
XM_005264573.5:c.1609A>G XP_005264630.1:p.Ile537Val
XM_017005015.1:c.1609A>G XP_016860504.1:p.Ile537Val
XM_017005016.2:c.1360A>G XP_016860505.1:p.Ile454Val
XM_017005017.1:c.1360A>G XP_016860506.1:p.Ile454Val
NM_001190274.2:c.1612A>G MANE Select NP_001177203.1:p.Ile538Val
NM_001374325.1:c.1360A>G NP_001361254.1:p.Ile454Val
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