Canonical Allele Identifier: CA3497391

Gene: FBXO38

Linked Data

• ClinVar Variation Id: 2874557
• ClinVar RCV Id: RCV003763493
• dbSNP Id: rs760580207
• ExAC: 5:147805186 A / G
• gnomAD v2: 5-147805186-A-G
• gnomAD v4: 5-148425623-A-G
• MyVariant Identifiers: chr5:g.147805186A>G (hg19) ; chr5:g.148425623A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148425623A>G , CM000667.2:g.148425623A>G	GRCh38
NC_000005.9:g.147805186A>G , CM000667.1:g.147805186A>G	GRCh37
NC_000005.8:g.147785379A>G	NCBI36
NG_033871.1:g.46689A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340253.10:c.1840A>G MANE Select	ENSP00000342023.6:p.Ile614Val
ENST00000296701.10:c.1840A>G	ENSP00000296701.6:p.Ile614Val
ENST00000340253.9:c.1840A>G	ENSP00000342023.5:p.Ile614Val
ENST00000394370.7:c.1840A>G	ENSP00000377895.3:p.Ile614Val
ENST00000513826.1:c.1840A>G	ENSP00000426410.1:p.Ile614Val
ENST00000514832.1:n.471A>G
NM_001271723.1:c.1840A>G	NP_001258652.1:p.Ile614Val
NM_030793.4:c.1840A>G	NP_110420.3:p.Ile614Val
XM_005268513.1:c.1840A>G	XP_005268570.1:p.Ile614Val
XM_006714797.1:c.1840A>G	XP_006714860.1:p.Ile614Val
XM_011537683.1:c.742A>G	XP_011535985.1:p.Ile248Val
XM_011537684.1:c.640A>G	XP_011535986.1:p.Ile214Val
NM_205836.2:c.1840A>G	NP_995308.1:p.Ile614Val
XM_006714797.2:c.1840A>G	XP_006714860.1:p.Ile614Val
XM_011537684.3:c.640A>G	XP_011535986.1:p.Ile214Val
XM_017009899.1:c.742A>G	XP_016865388.1:p.Ile248Val
XM_017009900.2:c.640A>G	XP_016865389.1:p.Ile214Val
XM_017009901.2:c.742A>G	XP_016865390.1:p.Ile248Val
XM_017009902.2:c.640A>G	XP_016865391.1:p.Ile214Val
XM_024446223.1:c.1840A>G	XP_024301991.1:p.Ile614Val
XR_001742284.1:n.1986A>G
NM_030793.5:c.1840A>G	NP_110420.3:p.Ile614Val
NM_205836.3:c.1840A>G MANE Select	NP_995308.1:p.Ile614Val
NM_001271723.2:c.1840A>G	NP_001258652.1:p.Ile614Val