Canonical Allele Identifier: CA10201293
Gene: FBXO7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3093805
ClinVar RCV Id: RCV004389088
dbSNP Id: rs771566237
ExAC: 22:32871008 C / G
gnomAD v2: 22-32871008-C-G
gnomAD v3: 22-32475021-C-G
gnomAD v4: 22-32475021-C-G
MyVariant Identifiers: chr22:g.32871008C>G (hg19) chr22:g.32475021C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32475021C>G , CM000684.2:g.32475021C>G GRCh38
NC_000022.10:g.32871008C>G , CM000684.1:g.32871008C>G GRCh37
NC_000022.9:g.31201008C>G NCBI36
NG_016001.1:g.5302C>G
NG_016001.2:g.5302C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266087.12:c.19C>G MANE Select ENSP00000266087.7:p.Leu7Val
ENST00000266087.11:c.19C>G ENSP00000266087.7:p.Leu7Val
ENST00000420700.5:c.19C>G ENSP00000406155.1:p.Leu7Val
ENST00000425028.5:c.19C>G ENSP00000395823.1:p.Leu7Val
ENST00000492535.1:n.7C>G
NM_012179.3:c.19C>G NP_036311.3:p.Leu7Val
XM_011530106.1:c.-155C>G XP_011528408.1:n.-155C>G
XM_024452207.1:c.-172C>G XP_024307975.1:n.-172C>G
NM_012179.4:c.19C>G MANE Select NP_036311.3:p.Leu7Val
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