Canonical Allele Identifier: CA1619378560

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950691A= , CM000668.2:g.31950691A=	GRCh38
NC_000006.11:g.31918468A= , CM000668.1:g.31918468A=	GRCh37
NC_000006.10:g.32026447A=	NCBI36
NG_008191.1:g.9748A= , LRG_136:g.9748A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2089A=
ENST00000483004.2:c.1481A=	ENSP00000419887.2:p.Glu494=
ENST00000698628.1:c.1624+288A=	ENSP00000513848.1:n.1624+288A=
ENST00000698629.1:n.1874A=
ENST00000698630.1:n.2413A=
ENST00000698631.1:n.2414A=
ENST00000698632.1:n.3208A=
ENST00000698633.1:n.3098A=
ENST00000698636.1:n.1919A=
ENST00000425368.7:c.1697A= MANE Select	ENSP00000416561.2:p.Glu566=
ENST00000425368.6:c.1697A=	ENSP00000416561.2:p.Glu566=
ENST00000456570.5:c.3203A=	ENSP00000410815.1:p.Glu1068=
ENST00000467360.1:n.823A=
ENST00000477310.1:c.2750A=	ENSP00000418996.1:p.Glu917=
ENST00000483004.1:c.319A=
NM_001710.5:c.1697A= , LRG_136t1:c.1697A=	NP_001701.2:p.Glu566=
NM_001710.6:c.1697A= MANE Select	NP_001701.2:p.Glu566=