Canonical Allele Identifier: CA346813374
Gene: FBXO11 HGNC NCBI

Linked Data

ClinVar Variation Id: 559601
ClinVar RCV Id: RCV000677378 RCV001291313
dbSNP Id: rs1553342109
MyVariant Identifiers: chr2:g.48066586T>A (hg19) chr2:g.47839447T>A (hg38)
PubMed: PMID:28135719
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47839447T>A , CM000664.2:g.47839447T>A GRCh38
NC_000002.11:g.48066586T>A , CM000664.1:g.48066586T>A GRCh37
NC_000002.10:g.47920090T>A NCBI36
NG_008397.1:g.71229A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000681999.1:n.291A>T
ENST00000682451.1:n.263A>T
ENST00000682975.1:n.309A>T
ENST00000683894.1:c.162A>T ENSP00000507789.1:p.Arg54Ser
ENST00000684085.1:n.291A>T
ENST00000684712.1:n.522A>T
ENST00000403359.8:c.414A>T MANE Select ENSP00000384823.4:p.Arg138Ser
ENST00000316377.8:c.182A>T ENSP00000323822.5:p.Glu61Val
ENST00000402508.5:c.162A>T ENSP00000385398.1:p.Arg54Ser
ENST00000403359.7:c.414A>T ENSP00000384823.3:p.Arg138Ser
ENST00000424163.2:c.162A>T ENSP00000392272.1:p.Arg54Ser
ENST00000480038.1:n.377A>T
ENST00000492225.5:n.262A>T
NM_001190274.1:c.414A>T NP_001177203.1:p.Arg138Ser
NM_025133.4:c.162A>T NP_079409.3:p.Arg54Ser
XM_005264572.3:c.414A>T XP_005264629.1:p.Arg138Ser
XM_005264573.3:c.414A>T XP_005264630.1:p.Arg138Ser
XM_005264572.5:c.414A>T XP_005264629.1:p.Arg138Ser
XM_005264573.5:c.414A>T XP_005264630.1:p.Arg138Ser
XM_017005015.1:c.414A>T XP_016860504.1:p.Arg138Ser
XM_017005016.2:c.162A>T XP_016860505.1:p.Arg54Ser
XM_017005017.1:c.162A>T XP_016860506.1:p.Arg54Ser
NM_001190274.2:c.414A>T MANE Select NP_001177203.1:p.Arg138Ser
NM_001374325.1:c.162A>T NP_001361254.1:p.Arg54Ser
Search 100 bp 5'
Search 100 bp 3'