Canonical Allele Identifier: CA8101540
Community Standard Title: NM_018378.3(FBXL8):c.720A>C (p.Glu240Asp)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67163415A>C , CM000678.2:g.67163415A>C GRCh38
NC_000016.9:g.67197318A>C , CM000678.1:g.67197318A>C GRCh37
NC_000016.8:g.65754819A>C NCBI36
NG_009294.1:g.5031A>C

Transcript Alleles

HGVS Amino-acid Change
NM_018378.3:c.720A>C (FBXL8) MANE Select NP_060848.2:p.Glu240Asp
ENST00000258200.8:c.720A>C (FBXL8) MANE Select ENSP00000258200.3:p.Glu240Asp
NM_001040667.2:c.-935A>C (HSF4) NP_001035757.1:n.-935A>C
NM_001538.3:c.-935A>C (HSF4) NP_001529.2:n.-935A>C
NM_018378.2:c.720A>C (FBXL8) NP_060848.2:p.Glu240Asp
ENST00000258200.7:c.720A>C (FBXL8) ENSP00000258200.3:p.Glu240Asp
ENST00000517382.5:c.153-604A>C (FBXL8) ENSP00000430745.1:n.153-604A>C
ENST00000519917.5:c.720A>C (FBXL8) ENSP00000430490.1:p.Glu240Asp
ENST00000519945.5:c.153-97A>C (FBXL8) ENSP00000429684.1:n.153-97A>C
ENST00000580114.5:c.31A>C