Canonical Allele Identifier: CA2986558098

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950692dup , CM000668.2:g.31950692dup	GRCh38
NC_000006.11:g.31918469dup , CM000668.1:g.31918469dup	GRCh37
NC_000006.10:g.32026448dup	NCBI36
NG_008191.1:g.9749dup , LRG_136:g.9749dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2090dup
ENST00000483004.2:c.1482dup	ENSP00000419887.2:p.Ala495SerfsTer5
ENST00000698628.1:c.1624+289dup	ENSP00000513848.1:n.1624+289dup
ENST00000698629.1:n.1875dup
ENST00000698630.1:n.2414dup
ENST00000698631.1:n.2415dup
ENST00000698632.1:n.3209dup
ENST00000698633.1:n.3099dup
ENST00000698636.1:n.1920dup
ENST00000425368.7:c.1698dup MANE Select	ENSP00000416561.2:p.Ala567SerfsTer5
ENST00000425368.6:c.1698dup	ENSP00000416561.2:p.Ala567SerfsTer5
ENST00000456570.5:c.3204dup	ENSP00000410815.1:p.Ala1069SerfsTer5
ENST00000467360.1:n.824dup
ENST00000477310.1:c.2751dup	ENSP00000418996.1:p.Ala918SerfsTer5
ENST00000483004.1:c.320dup
NM_001710.5:c.1698dup , LRG_136t1:c.1698dup	NP_001701.2:p.Ala567SerfsTer5
NM_001710.6:c.1698dup MANE Select	NP_001701.2:p.Ala567SerfsTer5