Canonical Allele Identifier: CA1619378518

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950643T= , CM000668.2:g.31950643T=	GRCh38
NC_000006.11:g.31918420T= , CM000668.1:g.31918420T=	GRCh37
NC_000006.10:g.32026399T=	NCBI36
NG_008191.1:g.9700T= , LRG_136:g.9700T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2041T=
ENST00000483004.2:c.1433T=	ENSP00000419887.2:p.Ile478=
ENST00000698628.1:c.1624+240T=	ENSP00000513848.1:n.1624+240T=
ENST00000698629.1:n.1826T=
ENST00000698630.1:n.2365T=
ENST00000698631.1:n.2366T=
ENST00000698632.1:n.3160T=
ENST00000698633.1:n.3050T=
ENST00000698636.1:n.1871T=
ENST00000425368.7:c.1649T= MANE Select	ENSP00000416561.2:p.Ile550=
ENST00000425368.6:c.1649T=	ENSP00000416561.2:p.Ile550=
ENST00000452035.6:n.1864T=
ENST00000456570.5:c.3155T=	ENSP00000410815.1:p.Ile1052=
ENST00000467360.1:n.775T=
ENST00000477310.1:c.2702T=	ENSP00000418996.1:p.Ile901=
ENST00000483004.1:c.271T=
NM_001710.5:c.1649T= , LRG_136t1:c.1649T=	NP_001701.2:p.Ile550=
NM_001710.6:c.1649T= MANE Select	NP_001701.2:p.Ile550=