Canonical Allele Identifier: CA1619378589

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950722C= , CM000668.2:g.31950722C=	GRCh38
NC_000006.11:g.31918499C= , CM000668.1:g.31918499C=	GRCh37
NC_000006.10:g.32026478C=	NCBI36
NG_008191.1:g.9779C= , LRG_136:g.9779C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2120C=
ENST00000483004.2:c.1512C=	ENSP00000419887.2:p.Asp504=
ENST00000698628.1:c.1624+319C=	ENSP00000513848.1:n.1624+319C=
ENST00000698629.1:n.1905C=
ENST00000698630.1:n.2444C=
ENST00000698631.1:n.2445C=
ENST00000698632.1:n.3239C=
ENST00000698633.1:n.3129C=
ENST00000698636.1:n.1950C=
ENST00000425368.7:c.1728C= MANE Select	ENSP00000416561.2:p.Asp576=
ENST00000425368.6:c.1728C=	ENSP00000416561.2:p.Asp576=
ENST00000456570.5:c.3234C=	ENSP00000410815.1:p.Asp1078=
ENST00000467360.1:n.854C=
ENST00000477310.1:c.2781C=	ENSP00000418996.1:p.Asp927=
ENST00000483004.1:c.350C=
NM_001710.5:c.1728C= , LRG_136t1:c.1728C=	NP_001701.2:p.Asp576=
NM_001710.6:c.1728C= MANE Select	NP_001701.2:p.Asp576=