Canonical Allele Identifier: CA4866403

Gene: FBXO32

Linked Data

• ClinVar Variation Id: 1282066
• ClinVar RCV Id: RCV001694050
• dbSNP Id: rs73330050
• ExAC: 8:124516813 G / A
• gnomAD v2: 8-124516813-G-A
• gnomAD v3: 8-123504573-G-A
• gnomAD v4: 8-123504573-G-A
• MyVariant Identifiers: chr8:g.124516813G>A (hg19) ; chr8:g.123504573G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.123504573G>A , CM000670.2:g.123504573G>A	GRCh38
NC_000008.10:g.124516813G>A , CM000670.1:g.124516813G>A	GRCh37
NC_000008.9:g.124585994G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287396.2:n.852+31C>T
ENST00000443022.2:c.699+31C>T	ENSP00000390790.2:n.699+31C>T
ENST00000517956.5:c.978+31C>T MANE Select	ENSP00000428205.1:n.978+31C>T
ENST00000524000.5:n.378+31C>T
NM_001242463.1:c.699+31C>T	NP_001229392.1:n.699+31C>T
NM_058229.3:c.978+31C>T	NP_478136.1:n.978+31C>T
NM_148177.2:c.543+31C>T	NP_680482.1:n.543+31C>T
NM_058229.4:c.978+31C>T MANE Select	NP_478136.1:n.978+31C>T
NM_001242463.2:c.699+31C>T	NP_001229392.1:n.699+31C>T
NM_148177.3:c.543+31C>T	NP_680482.1:n.543+31C>T