Canonical Allele Identifier: CA365086302
Gene: FBXL4 HGNC NCBI

Linked Data

gnomAD v4: 6-98875441-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98875441G>A , CM000668.2:g.98875441G>A GRCh38
NC_000006.11:g.99323317G>A , CM000668.1:g.99323317G>A GRCh37
NC_000006.10:g.99430038G>A NCBI36
NG_033903.1:g.77566C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1676C>T MANE Select ENSP00000358247.1:p.Thr559Ile
ENST00000229971.2:c.1676C>T ENSP00000229971.1:p.Thr559Ile
ENST00000369244.6:c.1676C>T ENSP00000358247.1:p.Thr559Ile
NM_001278716.1:c.1676C>T NP_001265645.1:p.Thr559Ile
NM_012160.4:c.1676C>T NP_036292.2:p.Thr559Ile
NR_103836.1:n.1721C>T
XM_005266930.1:c.1604C>T XP_005266987.1:p.Thr535Ile
XM_005266930.3:c.1604C>T XP_005266987.1:p.Thr535Ile
XM_017010726.1:c.1676C>T XP_016866215.1:p.Thr559Ile
XM_017010727.2:c.1604C>T XP_016866216.1:p.Thr535Ile
XM_017010728.1:c.950C>T XP_016866217.1:p.Thr317Ile
NM_001278716.2:c.1676C>T MANE Select NP_001265645.1:p.Thr559Ile
NR_103836.2:n.1661C>T
NM_012160.5:c.1676C>T NP_036292.2:p.Thr559Ile