Canonical Allele Identifier: CA1619378522

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950645G= , CM000668.2:g.31950645G=	GRCh38
NC_000006.11:g.31918422G= , CM000668.1:g.31918422G=	GRCh37
NC_000006.10:g.32026401G=	NCBI36
NG_008191.1:g.9702G= , LRG_136:g.9702G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2043G=
ENST00000483004.2:c.1435G=	ENSP00000419887.2:p.Glu479=
ENST00000698628.1:c.1624+242G=	ENSP00000513848.1:n.1624+242G=
ENST00000698629.1:n.1828G=
ENST00000698630.1:n.2367G=
ENST00000698631.1:n.2368G=
ENST00000698632.1:n.3162G=
ENST00000698633.1:n.3052G=
ENST00000698636.1:n.1873G=
ENST00000425368.7:c.1651G= MANE Select	ENSP00000416561.2:p.Glu551=
ENST00000425368.6:c.1651G=	ENSP00000416561.2:p.Glu551=
ENST00000452035.6:n.1866G=
ENST00000456570.5:c.3157G=	ENSP00000410815.1:p.Glu1053=
ENST00000467360.1:n.777G=
ENST00000477310.1:c.2704G=	ENSP00000418996.1:p.Glu902=
ENST00000483004.1:c.273G=
NM_001710.5:c.1651G= , LRG_136t1:c.1651G=	NP_001701.2:p.Glu551=
NM_001710.6:c.1651G= MANE Select	NP_001701.2:p.Glu551=