Canonical Allele Identifier: CA365087014
Gene: FBXL4 HGNC NCBI

Linked Data

gnomAD v4: 6-98875556-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98875556T>A , CM000668.2:g.98875556T>A GRCh38
NC_000006.11:g.99323432T>A , CM000668.1:g.99323432T>A GRCh37
NC_000006.10:g.99430153T>A NCBI36
NG_033903.1:g.77451A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1561A>T MANE Select ENSP00000358247.1:p.Ser521Cys
ENST00000229971.2:c.1561A>T ENSP00000229971.1:p.Ser521Cys
ENST00000369244.6:c.1561A>T ENSP00000358247.1:p.Ser521Cys
NM_001278716.1:c.1561A>T NP_001265645.1:p.Ser521Cys
NM_012160.4:c.1561A>T NP_036292.2:p.Ser521Cys
NR_103836.1:n.1606A>T
XM_005266930.1:c.1489A>T XP_005266987.1:p.Ser497Cys
XM_005266930.3:c.1489A>T XP_005266987.1:p.Ser497Cys
XM_017010726.1:c.1561A>T XP_016866215.1:p.Ser521Cys
XM_017010727.2:c.1489A>T XP_016866216.1:p.Ser497Cys
XM_017010728.1:c.835A>T XP_016866217.1:p.Ser279Cys
NM_001278716.2:c.1561A>T MANE Select NP_001265645.1:p.Ser521Cys
NR_103836.2:n.1546A>T
NM_012160.5:c.1561A>T NP_036292.2:p.Ser521Cys