Canonical Allele Identifier: CA16021019
Community Standard Title: NM_001278716.2(FBXL4):c.1317G>A (p.Glu439=)
Gene: FBXL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98899268C>T , CM000668.2:g.98899268C>T GRCh38
NC_000006.11:g.99347144C>T , CM000668.1:g.99347144C>T GRCh37
NC_000006.10:g.99453865C>T NCBI36
NG_033903.1:g.53739G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001278716.2:c.1317G>A MANE Select NP_001265645.1:p.Glu439=
ENST00000369244.7:c.1317G>A MANE Select ENSP00000358247.1:p.Glu439=
NM_001278716.1:c.1317G>A NP_001265645.1:p.Glu439=
NM_012160.4:c.1317G>A NP_036292.2:p.Glu439=
NM_012160.5:c.1317G>A NP_036292.2:p.Glu439=
NR_103836.1:n.1362G>A
NR_103836.2:n.1302G>A
NR_103837.1:n.1362G>A
NR_103837.2:n.1302G>A
ENST00000229971.2:c.1317G>A ENSP00000229971.1:p.Glu439=
ENST00000369244.6:c.1317G>A ENSP00000358247.1:p.Glu439=
XM_005266930.1:c.1317G>A XP_005266987.1:p.Glu439=
XM_005266930.3:c.1317G>A XP_005266987.1:p.Glu439=
XM_017010726.1:c.1317G>A XP_016866215.1:p.Glu439=
XM_017010727.2:c.1317G>A XP_016866216.1:p.Glu439=
XM_017010728.1:c.591G>A XP_016866217.1:p.Glu197=