Canonical Allele Identifier: CA1619378592

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950723G= , CM000668.2:g.31950723G=	GRCh38
NC_000006.11:g.31918500G= , CM000668.1:g.31918500G=	GRCh37
NC_000006.10:g.32026479G=	NCBI36
NG_008191.1:g.9780G= , LRG_136:g.9780G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2121G=
ENST00000483004.2:c.1513G=	ENSP00000419887.2:p.Val505=
ENST00000698628.1:c.1624+320G=	ENSP00000513848.1:n.1624+320G=
ENST00000698629.1:n.1906G=
ENST00000698630.1:n.2445G=
ENST00000698631.1:n.2446G=
ENST00000698632.1:n.3240G=
ENST00000698633.1:n.3130G=
ENST00000698636.1:n.1951G=
ENST00000425368.7:c.1729G= MANE Select	ENSP00000416561.2:p.Val577=
ENST00000425368.6:c.1729G=	ENSP00000416561.2:p.Val577=
ENST00000456570.5:c.3235G=	ENSP00000410815.1:p.Val1079=
ENST00000467360.1:n.855G=
ENST00000477310.1:c.2782G=	ENSP00000418996.1:p.Val928=
ENST00000483004.1:c.351G=
NM_001710.5:c.1729G= , LRG_136t1:c.1729G=	NP_001701.2:p.Val577=
NM_001710.6:c.1729G= MANE Select	NP_001701.2:p.Val577=