Canonical Allele Identifier: CA1619378789

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950940A= , CM000668.2:g.31950940A=	GRCh38
NC_000006.11:g.31918717A= , CM000668.1:g.31918717A=	GRCh37
NC_000006.10:g.32026696A=	NCBI36
NG_008191.1:g.9997A= , LRG_136:g.9997A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2338A=
ENST00000483004.2:c.1635A=	ENSP00000419887.2:p.Gln545=
ENST00000698628.1:c.1625-204A=	ENSP00000513848.1:n.1625-204A=
ENST00000698629.1:n.2123A=
ENST00000698630.1:n.2567A=
ENST00000698631.1:n.2568A=
ENST00000698632.1:n.3457A=
ENST00000698633.1:n.3347A=
ENST00000425368.7:c.1851A= MANE Select	ENSP00000416561.2:p.Gln617=
ENST00000425368.6:c.1851A=	ENSP00000416561.2:p.Gln617=
ENST00000456570.5:c.3357A=	ENSP00000410815.1:p.Gln1119=
ENST00000467360.1:n.977A=
ENST00000477310.1:c.2904A=	ENSP00000418996.1:p.Gln968=
ENST00000482312.1:n.67A=
ENST00000483004.1:c.473A=
NM_001710.5:c.1851A= , LRG_136t1:c.1851A=	NP_001701.2:p.Gln617=
NM_001710.6:c.1851A= MANE Select	NP_001701.2:p.Gln617=