Canonical Allele Identifier: CA1619378794

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950942A= , CM000668.2:g.31950942A=	GRCh38
NC_000006.11:g.31918719A= , CM000668.1:g.31918719A=	GRCh37
NC_000006.10:g.32026698A=	NCBI36
NG_008191.1:g.9999A= , LRG_136:g.9999A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2340A=
ENST00000483004.2:c.1637A=	ENSP00000419887.2:p.Gln546=
ENST00000698628.1:c.1625-202A=	ENSP00000513848.1:n.1625-202A=
ENST00000698629.1:n.2125A=
ENST00000698630.1:n.2569A=
ENST00000698631.1:n.2570A=
ENST00000698632.1:n.3459A=
ENST00000698633.1:n.3349A=
ENST00000425368.7:c.1853A= MANE Select	ENSP00000416561.2:p.Gln618=
ENST00000425368.6:c.1853A=	ENSP00000416561.2:p.Gln618=
ENST00000456570.5:c.3359A=	ENSP00000410815.1:p.Gln1120=
ENST00000467360.1:n.979A=
ENST00000477310.1:c.2906A=	ENSP00000418996.1:p.Gln969=
ENST00000482312.1:n.69A=
ENST00000483004.1:c.475A=
NM_001710.5:c.1853A= , LRG_136t1:c.1853A=	NP_001701.2:p.Gln618=
NM_001710.6:c.1853A= MANE Select	NP_001701.2:p.Gln618=