Canonical Allele Identifier: CA397762691
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs1311807573
gnomAD v2: 17-6684131-G-C
gnomAD v3: 17-6780812-G-C
gnomAD v4: 17-6780812-G-C
MyVariant Identifiers: chr17:g.6684131G>C (hg19) chr17:g.6780812G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780812G>C , CM000679.2:g.6780812G>C GRCh38
NC_000017.10:g.6684131G>C , CM000679.1:g.6684131G>C GRCh37
NC_000017.9:g.6624855G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.944G>C MANE Select ENSP00000321386.4:p.Ser315Thr
ENST00000321535.4:c.944G>C ENSP00000321386.4:p.Ser315Thr
NM_153230.2:c.944G>C NP_694962.1:p.Ser315Thr
XM_011523697.1:c.944G>C XP_011521999.1:p.Ser315Thr
XR_243544.3:n.1122G>C
NM_153230.3:c.944G>C MANE Select NP_694962.1:p.Ser315Thr
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