Canonical Allele Identifier: CA361654305

Gene: FBXO38

Linked Data

• ClinVar Variation Id: 2756418
• ClinVar RCV Id: RCV003597033
• gnomAD v4: 5-148399117-G-A
• MyVariant Identifiers: chr5:g.147778680G>A (hg19) ; chr5:g.148399117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148399117G>A , CM000667.2:g.148399117G>A	GRCh38
NC_000005.9:g.147778680G>A , CM000667.1:g.147778680G>A	GRCh37
NC_000005.8:g.147758873G>A	NCBI36
NG_033871.1:g.20183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340253.10:c.247G>A MANE Select	ENSP00000342023.6:p.Glu83Lys
ENST00000296701.10:c.247G>A	ENSP00000296701.6:p.Glu83Lys
ENST00000340253.9:c.247G>A	ENSP00000342023.5:p.Glu83Lys
ENST00000394370.7:c.247G>A	ENSP00000377895.3:p.Glu83Lys
ENST00000502629.1:n.121G>A
ENST00000503613.5:n.456G>A
ENST00000508326.5:n.348G>A
ENST00000509411.5:n.341G>A
ENST00000509699.6:n.312G>A
ENST00000511080.5:n.221+4213G>A
ENST00000513826.1:c.247G>A	ENSP00000426410.1:p.Glu83Lys
ENST00000521160.5:n.296G>A
NM_001271723.1:c.247G>A	NP_001258652.1:p.Glu83Lys
NM_030793.4:c.247G>A	NP_110420.3:p.Glu83Lys
XM_005268513.1:c.247G>A	XP_005268570.1:p.Glu83Lys
XM_006714797.1:c.247G>A	XP_006714860.1:p.Glu83Lys
NM_205836.2:c.247G>A	NP_995308.1:p.Glu83Lys
XM_006714797.2:c.247G>A	XP_006714860.1:p.Glu83Lys
XM_011537684.3:c.-1101G>A	XP_011535986.1:n.-1101G>A
XM_017009899.1:c.-1011G>A	XP_016865388.1:n.-1011G>A
XM_017009900.2:c.-1260G>A	XP_016865389.1:n.-1260G>A
XM_017009901.2:c.-1011G>A	XP_016865390.1:n.-1011G>A
XM_017009902.2:c.-1101G>A	XP_016865391.1:n.-1101G>A
XM_024446223.1:c.247G>A	XP_024301991.1:p.Glu83Lys
XR_001742284.1:n.393G>A
NM_030793.5:c.247G>A	NP_110420.3:p.Glu83Lys
NM_205836.3:c.247G>A MANE Select	NP_995308.1:p.Glu83Lys
NM_001271723.2:c.247G>A	NP_001258652.1:p.Glu83Lys