Canonical Allele Identifier: CA346813343

Gene: FBXO11

Linked Data

• dbSNP Id: rs1558430738
• gnomAD v4: 2-47839436-T-C
• MyVariant Identifiers: chr2:g.48066575T>C (hg19) ; chr2:g.47839436T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47839436T>C , CM000664.2:g.47839436T>C	GRCh38
NC_000002.11:g.48066575T>C , CM000664.1:g.48066575T>C	GRCh37
NC_000002.10:g.47920079T>C	NCBI36
NG_008397.1:g.71240A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681999.1:n.302A>G
ENST00000682451.1:n.274A>G
ENST00000682975.1:n.320A>G
ENST00000683894.1:c.173A>G	ENSP00000507789.1:p.Lys58Arg
ENST00000684085.1:n.302A>G
ENST00000684712.1:n.533A>G
ENST00000403359.8:c.425A>G MANE Select	ENSP00000384823.4:p.Lys142Arg
ENST00000316377.8:c.193-2A>G	ENSP00000323822.5:n.193-2A>G
ENST00000402508.5:c.173A>G	ENSP00000385398.1:p.Lys58Arg
ENST00000403359.7:c.425A>G	ENSP00000384823.3:p.Lys142Arg
ENST00000424163.2:c.173A>G	ENSP00000392272.1:p.Lys58Arg
ENST00000480038.1:n.388A>G
ENST00000492225.5:n.273A>G
NM_001190274.1:c.425A>G	NP_001177203.1:p.Lys142Arg
NM_025133.4:c.173A>G	NP_079409.3:p.Lys58Arg
XM_005264572.3:c.425A>G	XP_005264629.1:p.Lys142Arg
XM_005264573.3:c.425A>G	XP_005264630.1:p.Lys142Arg
XM_005264572.5:c.425A>G	XP_005264629.1:p.Lys142Arg
XM_005264573.5:c.425A>G	XP_005264630.1:p.Lys142Arg
XM_017005015.1:c.425A>G	XP_016860504.1:p.Lys142Arg
XM_017005016.2:c.173A>G	XP_016860505.1:p.Lys58Arg
XM_017005017.1:c.173A>G	XP_016860506.1:p.Lys58Arg
NM_001190274.2:c.425A>G MANE Select	NP_001177203.1:p.Lys142Arg
NM_001374325.1:c.173A>G	NP_001361254.1:p.Lys58Arg