Canonical Allele Identifier: CA365086818
Gene: FBXL4 HGNC NCBI

Linked Data

gnomAD v4: 6-98875523-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98875523G>A , CM000668.2:g.98875523G>A GRCh38
NC_000006.11:g.99323399G>A , CM000668.1:g.99323399G>A GRCh37
NC_000006.10:g.99430120G>A NCBI36
NG_033903.1:g.77484C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1594C>T MANE Select ENSP00000358247.1:p.Leu532Phe
ENST00000229971.2:c.1594C>T ENSP00000229971.1:p.Leu532Phe
ENST00000369244.6:c.1594C>T ENSP00000358247.1:p.Leu532Phe
NM_001278716.1:c.1594C>T NP_001265645.1:p.Leu532Phe
NM_012160.4:c.1594C>T NP_036292.2:p.Leu532Phe
NR_103836.1:n.1639C>T
XM_005266930.1:c.1522C>T XP_005266987.1:p.Leu508Phe
XM_005266930.3:c.1522C>T XP_005266987.1:p.Leu508Phe
XM_017010726.1:c.1594C>T XP_016866215.1:p.Leu532Phe
XM_017010727.2:c.1522C>T XP_016866216.1:p.Leu508Phe
XM_017010728.1:c.868C>T XP_016866217.1:p.Leu290Phe
NM_001278716.2:c.1594C>T MANE Select NP_001265645.1:p.Leu532Phe
NR_103836.2:n.1579C>T
NM_012160.5:c.1594C>T NP_036292.2:p.Leu532Phe