Canonical Allele Identifier: CA3933447
Gene: FBXL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 437751
ClinVar RCV Id: RCV000499656
dbSNP Id: rs116538686
gnomAD v2: 6-99323603-T-C
gnomAD v3: 6-98875727-T-C
gnomAD v4: 6-98875727-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98875727T>C , CM000668.2:g.98875727T>C GRCh38
NC_000006.11:g.99323603T>C , CM000668.1:g.99323603T>C GRCh37
NC_000006.10:g.99430324T>C NCBI36
NG_033903.1:g.77280A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1390A>G MANE Select ENSP00000358247.1:p.Ile464Val
ENST00000229971.2:c.1390A>G ENSP00000229971.1:p.Ile464Val
ENST00000369244.6:c.1390A>G ENSP00000358247.1:p.Ile464Val
NM_001278716.1:c.1390A>G NP_001265645.1:p.Ile464Val
NM_012160.4:c.1390A>G NP_036292.2:p.Ile464Val
NR_103836.1:n.1435A>G
XM_005266930.1:c.1318A>G XP_005266987.1:p.Ile440Val
XM_005266930.3:c.1318A>G XP_005266987.1:p.Ile440Val
XM_017010726.1:c.1390A>G XP_016866215.1:p.Ile464Val
XM_017010727.2:c.1318A>G XP_016866216.1:p.Ile440Val
XM_017010728.1:c.664A>G XP_016866217.1:p.Ile222Val
NM_001278716.2:c.1390A>G MANE Select NP_001265645.1:p.Ile464Val
NR_103836.2:n.1375A>G
NM_012160.5:c.1390A>G NP_036292.2:p.Ile464Val