Canonical Allele Identifier: CA8775990

Gene: FBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75920086G>A , CM000679.2:g.75920086G>A	GRCh38
NC_000017.10:g.73916167G>A , CM000679.1:g.73916167G>A	GRCh37
NC_000017.9:g.71427762G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001319193.2:c.1852C>T MANE Select	NP_001306122.1:p.Arg618Trp
ENST00000636174.2:c.1852C>T MANE Select	ENSP00000490726.1:p.Arg618Trp
NM_001080542.1:c.1807C>T	NP_001074011.1:p.Arg603Trp
NM_001319193.1:c.1852C>T	NP_001306122.1:p.Arg618Trp
ENST00000319129.10:c.1682C>T
ENST00000585990.5:n.2096C>T
ENST00000586717.5:c.1810C>T	ENSP00000465132.1:p.Arg604Trp
ENST00000592193.5:c.1850C>T
ENST00000592193.6:c.1849C>T	ENSP00000467004.2:p.Arg617Trp
ENST00000593156.1:n.1756C>T
ENST00000627351.1:c.1807C>T	ENSP00000486708.1:p.Arg603Trp
ENST00000636174.1:c.1852C>T	ENSP00000490726.1:p.Arg618Trp