Canonical Allele Identifier: CA2986558092

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950689dup , CM000668.2:g.31950689dup	GRCh38
NC_000006.11:g.31918466dup , CM000668.1:g.31918466dup	GRCh37
NC_000006.10:g.32026445dup	NCBI36
NG_008191.1:g.9746dup , LRG_136:g.9746dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2087dup
ENST00000483004.2:c.1479dup	ENSP00000419887.2:p.Glu494ArgfsTer6
ENST00000698628.1:c.1624+286dup	ENSP00000513848.1:n.1624+286dup
ENST00000698629.1:n.1872dup
ENST00000698630.1:n.2411dup
ENST00000698631.1:n.2412dup
ENST00000698632.1:n.3206dup
ENST00000698633.1:n.3096dup
ENST00000698636.1:n.1917dup
ENST00000425368.7:c.1695dup MANE Select	ENSP00000416561.2:p.Glu566ArgfsTer6
ENST00000425368.6:c.1695dup	ENSP00000416561.2:p.Glu566ArgfsTer6
ENST00000456570.5:c.3201dup	ENSP00000410815.1:p.Glu1068ArgfsTer6
ENST00000467360.1:n.821dup
ENST00000477310.1:c.2748dup	ENSP00000418996.1:p.Glu917ArgfsTer6
ENST00000483004.1:c.317dup
NM_001710.5:c.1695dup , LRG_136t1:c.1695dup	NP_001701.2:p.Glu566ArgfsTer6
NM_001710.6:c.1695dup MANE Select	NP_001701.2:p.Glu566ArgfsTer6