Canonical Allele Identifier: CA1619378775

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950923A= , CM000668.2:g.31950923A=	GRCh38
NC_000006.11:g.31918700A= , CM000668.1:g.31918700A=	GRCh37
NC_000006.10:g.32026679A=	NCBI36
NG_008191.1:g.9980A= , LRG_136:g.9980A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2321A=
ENST00000483004.2:c.1618A=	ENSP00000419887.2:p.Thr540=
ENST00000698628.1:c.1625-221A=	ENSP00000513848.1:n.1625-221A=
ENST00000698629.1:n.2106A=
ENST00000698630.1:n.2550A=
ENST00000698631.1:n.2551A=
ENST00000698632.1:n.3440A=
ENST00000698633.1:n.3330A=
ENST00000425368.7:c.1834A= MANE Select	ENSP00000416561.2:p.Thr612=
ENST00000425368.6:c.1834A=	ENSP00000416561.2:p.Thr612=
ENST00000456570.5:c.3340A=	ENSP00000410815.1:p.Thr1114=
ENST00000467360.1:n.960A=
ENST00000477310.1:c.2887A=	ENSP00000418996.1:p.Thr963=
ENST00000482312.1:n.50A=
ENST00000483004.1:c.456A=
NM_001710.5:c.1834A= , LRG_136t1:c.1834A=	NP_001701.2:p.Thr612=
NM_001710.6:c.1834A= MANE Select	NP_001701.2:p.Thr612=