Canonical Allele Identifier: CA1619378786

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950937G= , CM000668.2:g.31950937G=	GRCh38
NC_000006.11:g.31918714G= , CM000668.1:g.31918714G=	GRCh37
NC_000006.10:g.32026693G=	NCBI36
NG_008191.1:g.9994G= , LRG_136:g.9994G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2335G=
ENST00000483004.2:c.1632G=	ENSP00000419887.2:p.Gln544=
ENST00000698628.1:c.1625-207G=	ENSP00000513848.1:n.1625-207G=
ENST00000698629.1:n.2120G=
ENST00000698630.1:n.2564G=
ENST00000698631.1:n.2565G=
ENST00000698632.1:n.3454G=
ENST00000698633.1:n.3344G=
ENST00000425368.7:c.1848G= MANE Select	ENSP00000416561.2:p.Gln616=
ENST00000425368.6:c.1848G=	ENSP00000416561.2:p.Gln616=
ENST00000456570.5:c.3354G=	ENSP00000410815.1:p.Gln1118=
ENST00000467360.1:n.974G=
ENST00000477310.1:c.2901G=	ENSP00000418996.1:p.Gln967=
ENST00000482312.1:n.64G=
ENST00000483004.1:c.470G=
NM_001710.5:c.1848G= , LRG_136t1:c.1848G=	NP_001701.2:p.Gln616=
NM_001710.6:c.1848G= MANE Select	NP_001701.2:p.Gln616=