Canonical Allele Identifier: CA1619378525

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950653C= , CM000668.2:g.31950653C=	GRCh38
NC_000006.11:g.31918430C= , CM000668.1:g.31918430C=	GRCh37
NC_000006.10:g.32026409C=	NCBI36
NG_008191.1:g.9710C= , LRG_136:g.9710C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2051C=
ENST00000483004.2:c.1443C=	ENSP00000419887.2:p.Val481=
ENST00000698628.1:c.1624+250C=	ENSP00000513848.1:n.1624+250C=
ENST00000698629.1:n.1836C=
ENST00000698630.1:n.2375C=
ENST00000698631.1:n.2376C=
ENST00000698632.1:n.3170C=
ENST00000698633.1:n.3060C=
ENST00000698636.1:n.1881C=
ENST00000425368.7:c.1659C= MANE Select	ENSP00000416561.2:p.Val553=
ENST00000425368.6:c.1659C=	ENSP00000416561.2:p.Val553=
ENST00000456570.5:c.3165C=	ENSP00000410815.1:p.Val1055=
ENST00000467360.1:n.785C=
ENST00000477310.1:c.2712C=	ENSP00000418996.1:p.Val904=
ENST00000483004.1:c.281C=
NM_001710.5:c.1659C= , LRG_136t1:c.1659C=	NP_001701.2:p.Val553=
NM_001710.6:c.1659C= MANE Select	NP_001701.2:p.Val553=