Canonical Allele Identifier: CA1619374868

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946600T= , CM000668.2:g.31946600T=	GRCh38
NC_000006.11:g.31914377T= , CM000668.1:g.31914377T=	GRCh37
NC_000006.10:g.32022356T=	NCBI36
NG_008191.1:g.5657T= , LRG_136:g.5657T=
NG_011730.1:g.24112T= , LRG_26:g.24112T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.469T=
ENST00000483004.2:c.292T=	ENSP00000419887.2:p.Cys98=
ENST00000497841.6:c.292T=	ENSP00000513847.1:p.Cys98=
ENST00000698628.1:c.292T=	ENSP00000513848.1:p.Cys98=
ENST00000698629.1:n.469T=
ENST00000698630.1:n.453T=
ENST00000698631.1:n.448T=
ENST00000698632.1:n.420T=
ENST00000698633.1:n.390T=
ENST00000698636.1:n.514T=
ENST00000425368.7:c.292T= MANE Select	ENSP00000416561.2:p.Cys98=
ENST00000425368.6:c.292T=	ENSP00000416561.2:p.Cys98=
ENST00000452035.6:n.292T=
ENST00000456570.5:c.1798T=	ENSP00000410815.1:p.Cys600=
ENST00000460718.5:c.179T=	ENSP00000417793.1:p.Val60=
ENST00000472581.1:n.539T=
ENST00000475617.5:c.292T=	ENSP00000420090.1:p.Cys98=
ENST00000477310.1:c.1352-407T=	ENSP00000418996.1:n.1352-407T=
NM_001710.5:c.292T= , LRG_136t1:c.292T=	NP_001701.2:p.Cys98=
NM_001710.6:c.292T= MANE Select	NP_001701.2:p.Cys98=