Canonical Allele Identifier: CA639100075

Gene: FBXO7

Linked Data

• dbSNP Id: rs1161497052
• gnomAD v2: 22-32880414-G-C
• gnomAD v3: 22-32484427-G-C
• gnomAD v4: 22-32484427-G-C
• MyVariant Identifiers: chr22:g.32880414G>C (hg19) ; chr22:g.32484427G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32484427G>C , CM000684.2:g.32484427G>C	GRCh38
NC_000022.10:g.32880414G>C , CM000684.1:g.32880414G>C	GRCh37
NC_000022.9:g.31210414G>C	NCBI36
NG_016001.1:g.14708G>C
NG_016001.2:g.14708G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266087.12:c.645+303G>C MANE Select	ENSP00000266087.7:n.645+303G>C
ENST00000266087.11:c.645+303G>C	ENSP00000266087.7:n.645+303G>C
ENST00000397426.5:c.303+303G>C	ENSP00000380571.1:n.303+303G>C
ENST00000420700.5:c.*224+303G>C	ENSP00000406155.1:n.*224+303G>C
ENST00000425028.5:c.*343+303G>C	ENSP00000395823.1:n.*343+303G>C
ENST00000452138.3:c.408+303G>C	ENSP00000388547.2:n.408+303G>C
ENST00000492535.1:n.481+303G>C
NM_001033024.1:c.408+303G>C	NP_001028196.1:n.408+303G>C
NM_001257990.1:c.303+303G>C	NP_001244919.1:n.303+303G>C
NM_012179.3:c.645+303G>C	NP_036311.3:n.645+303G>C
XM_011530106.1:c.177+303G>C	XP_011528408.1:n.177+303G>C
XM_024452207.1:c.303+303G>C	XP_024307975.1:n.303+303G>C
NM_012179.4:c.645+303G>C MANE Select	NP_036311.3:n.645+303G>C
NM_001033024.2:c.408+303G>C	NP_001028196.1:n.408+303G>C
NM_001257990.2:c.303+303G>C	NP_001244919.1:n.303+303G>C