Canonical Allele Identifier: CA16021070
Community Standard Title: NM_001278716.2(FBXL4):c.1540T>G (p.Trp514Gly)
Gene: FBXL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98875577A>C , CM000668.2:g.98875577A>C GRCh38
NC_000006.11:g.99323453A>C , CM000668.1:g.99323453A>C GRCh37
NC_000006.10:g.99430174A>C NCBI36
NG_033903.1:g.77430T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001278716.2:c.1540T>G MANE Select NP_001265645.1:p.Trp514Gly
ENST00000369244.7:c.1540T>G MANE Select ENSP00000358247.1:p.Trp514Gly
NM_001278716.1:c.1540T>G NP_001265645.1:p.Trp514Gly
NM_012160.4:c.1540T>G NP_036292.2:p.Trp514Gly
NM_012160.5:c.1540T>G NP_036292.2:p.Trp514Gly
NR_103836.1:n.1585T>G
NR_103836.2:n.1525T>G
ENST00000229971.2:c.1540T>G ENSP00000229971.1:p.Trp514Gly
ENST00000369244.6:c.1540T>G ENSP00000358247.1:p.Trp514Gly
XM_005266930.1:c.1468T>G XP_005266987.1:p.Trp490Gly
XM_005266930.3:c.1468T>G XP_005266987.1:p.Trp490Gly
XM_017010726.1:c.1540T>G XP_016866215.1:p.Trp514Gly
XM_017010727.2:c.1468T>G XP_016866216.1:p.Trp490Gly
XM_017010728.1:c.814T>G XP_016866217.1:p.Trp272Gly