Canonical Allele Identifier: CA3933574
Community Standard Title: NM_001278716.2(FBXL4):c.954G>A (p.Leu318=)
Gene: FBXL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98905575C>T , CM000668.2:g.98905575C>T GRCh38
NC_000006.11:g.99353451C>T , CM000668.1:g.99353451C>T GRCh37
NC_000006.10:g.99460172C>T NCBI36
NG_033903.1:g.47432G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001278716.2:c.954G>A MANE Select NP_001265645.1:p.Leu318=
ENST00000369244.7:c.954G>A MANE Select ENSP00000358247.1:p.Leu318=
NM_001278716.1:c.954G>A NP_001265645.1:p.Leu318=
NM_012160.4:c.954G>A NP_036292.2:p.Leu318=
NM_012160.5:c.954G>A NP_036292.2:p.Leu318=
NR_103836.1:n.999G>A
NR_103836.2:n.939G>A
NR_103837.1:n.999G>A
NR_103837.2:n.939G>A
ENST00000229971.2:c.954G>A ENSP00000229971.1:p.Leu318=
ENST00000369244.6:c.954G>A ENSP00000358247.1:p.Leu318=
XM_005266930.1:c.954G>A XP_005266987.1:p.Leu318=
XM_005266930.3:c.954G>A XP_005266987.1:p.Leu318=
XM_011535748.1:c.954G>A XP_011534050.1:p.Leu318=
XM_011535748.3:c.954G>A XP_011534050.1:p.Leu318=
XM_017010726.1:c.954G>A XP_016866215.1:p.Leu318=
XM_017010727.2:c.954G>A XP_016866216.1:p.Leu318=
XM_017010728.1:c.228G>A XP_016866217.1:p.Leu76=