Canonical Allele Identifier: CA365087940
Gene: FBXL4 HGNC NCBI

Linked Data

gnomAD v4: 6-98875700-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98875700T>G , CM000668.2:g.98875700T>G GRCh38
NC_000006.11:g.99323576T>G , CM000668.1:g.99323576T>G GRCh37
NC_000006.10:g.99430297T>G NCBI36
NG_033903.1:g.77307A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1417A>C MANE Select ENSP00000358247.1:p.Met473Leu
ENST00000229971.2:c.1417A>C ENSP00000229971.1:p.Met473Leu
ENST00000369244.6:c.1417A>C ENSP00000358247.1:p.Met473Leu
NM_001278716.1:c.1417A>C NP_001265645.1:p.Met473Leu
NM_012160.4:c.1417A>C NP_036292.2:p.Met473Leu
NR_103836.1:n.1462A>C
XM_005266930.1:c.1345A>C XP_005266987.1:p.Met449Leu
XM_005266930.3:c.1345A>C XP_005266987.1:p.Met449Leu
XM_017010726.1:c.1417A>C XP_016866215.1:p.Met473Leu
XM_017010727.2:c.1345A>C XP_016866216.1:p.Met449Leu
XM_017010728.1:c.691A>C XP_016866217.1:p.Met231Leu
NM_001278716.2:c.1417A>C MANE Select NP_001265645.1:p.Met473Leu
NR_103836.2:n.1402A>C
NM_012160.5:c.1417A>C NP_036292.2:p.Met473Leu