Canonical Allele Identifier: CA16021018
Community Standard Title: NM_001278716.2(FBXL4):c.1304G>T (p.Arg435Leu)
Gene: FBXL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98899281C>A , CM000668.2:g.98899281C>A GRCh38
NC_000006.11:g.99347157C>A , CM000668.1:g.99347157C>A GRCh37
NC_000006.10:g.99453878C>A NCBI36
NG_033903.1:g.53726G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001278716.2:c.1304G>T MANE Select NP_001265645.1:p.Arg435Leu
ENST00000369244.7:c.1304G>T MANE Select ENSP00000358247.1:p.Arg435Leu
NM_001278716.1:c.1304G>T NP_001265645.1:p.Arg435Leu
NM_012160.4:c.1304G>T NP_036292.2:p.Arg435Leu
NM_012160.5:c.1304G>T NP_036292.2:p.Arg435Leu
NR_103836.1:n.1349G>T
NR_103836.2:n.1289G>T
NR_103837.1:n.1349G>T
NR_103837.2:n.1289G>T
ENST00000229971.2:c.1304G>T ENSP00000229971.1:p.Arg435Leu
ENST00000369244.6:c.1304G>T ENSP00000358247.1:p.Arg435Leu
XM_005266930.1:c.1304G>T XP_005266987.1:p.Arg435Leu
XM_005266930.3:c.1304G>T XP_005266987.1:p.Arg435Leu
XM_017010726.1:c.1304G>T XP_016866215.1:p.Arg435Leu
XM_017010727.2:c.1304G>T XP_016866216.1:p.Arg435Leu
XM_017010728.1:c.578G>T XP_016866217.1:p.Arg193Leu