Canonical Allele Identifier: CA346813339

Gene: FBXO11

Linked Data

• gnomAD v4: 2-47839435-T-A
• MyVariant Identifiers: chr2:g.48066574T>A (hg19) ; chr2:g.47839435T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47839435T>A , CM000664.2:g.47839435T>A	GRCh38
NC_000002.11:g.48066574T>A , CM000664.1:g.48066574T>A	GRCh37
NC_000002.10:g.47920078T>A	NCBI36
NG_008397.1:g.71241A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681999.1:n.303A>T
ENST00000682451.1:n.275A>T
ENST00000682975.1:n.321A>T
ENST00000683894.1:c.174A>T	ENSP00000507789.1:p.Lys58Asn
ENST00000684085.1:n.303A>T
ENST00000684712.1:n.534A>T
ENST00000403359.8:c.426A>T MANE Select	ENSP00000384823.4:p.Lys142Asn
ENST00000316377.8:c.193-1A>T	ENSP00000323822.5:n.193-1A>T
ENST00000402508.5:c.174A>T	ENSP00000385398.1:p.Lys58Asn
ENST00000403359.7:c.426A>T	ENSP00000384823.3:p.Lys142Asn
ENST00000424163.2:c.174A>T	ENSP00000392272.1:p.Lys58Asn
ENST00000480038.1:n.389A>T
ENST00000492225.5:n.274A>T
NM_001190274.1:c.426A>T	NP_001177203.1:p.Lys142Asn
NM_025133.4:c.174A>T	NP_079409.3:p.Lys58Asn
XM_005264572.3:c.426A>T	XP_005264629.1:p.Lys142Asn
XM_005264573.3:c.426A>T	XP_005264630.1:p.Lys142Asn
XM_005264572.5:c.426A>T	XP_005264629.1:p.Lys142Asn
XM_005264573.5:c.426A>T	XP_005264630.1:p.Lys142Asn
XM_017005015.1:c.426A>T	XP_016860504.1:p.Lys142Asn
XM_017005016.2:c.174A>T	XP_016860505.1:p.Lys58Asn
XM_017005017.1:c.174A>T	XP_016860506.1:p.Lys58Asn
NM_001190274.2:c.426A>T MANE Select	NP_001177203.1:p.Lys142Asn
NM_001374325.1:c.174A>T	NP_001361254.1:p.Lys58Asn