Canonical Allele Identifier: CA16021022
Community Standard Title: NM_001278716.2(FBXL4):c.1750T>C (p.Cys584Arg)
Gene: FBXL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98874394A>G , CM000668.2:g.98874394A>G GRCh38
NC_000006.11:g.99322270A>G , CM000668.1:g.99322270A>G GRCh37
NC_000006.10:g.99428991A>G NCBI36
NG_033903.1:g.78613T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001278716.2:c.1750T>C MANE Select NP_001265645.1:p.Cys584Arg
ENST00000369244.7:c.1750T>C MANE Select ENSP00000358247.1:p.Cys584Arg
NM_001278716.1:c.1750T>C NP_001265645.1:p.Cys584Arg
NM_012160.4:c.1750T>C NP_036292.2:p.Cys584Arg
NM_012160.5:c.1750T>C NP_036292.2:p.Cys584Arg
NR_103836.1:n.1795T>C
NR_103836.2:n.1735T>C
ENST00000229971.2:c.1750T>C ENSP00000229971.1:p.Cys584Arg
ENST00000369244.6:c.1750T>C ENSP00000358247.1:p.Cys584Arg
XM_005266930.1:c.1678T>C XP_005266987.1:p.Cys560Arg
XM_005266930.3:c.1678T>C XP_005266987.1:p.Cys560Arg
XM_017010726.1:c.1750T>C XP_016866215.1:p.Cys584Arg
XM_017010727.2:c.1678T>C XP_016866216.1:p.Cys560Arg
XM_017010728.1:c.1024T>C XP_016866217.1:p.Cys342Arg