Canonical Allele Identifier: CA1619378787

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950939A= , CM000668.2:g.31950939A=	GRCh38
NC_000006.11:g.31918716A= , CM000668.1:g.31918716A=	GRCh37
NC_000006.10:g.32026695A=	NCBI36
NG_008191.1:g.9996A= , LRG_136:g.9996A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2337A=
ENST00000483004.2:c.1634A=	ENSP00000419887.2:p.Gln545=
ENST00000698628.1:c.1625-205A=	ENSP00000513848.1:n.1625-205A=
ENST00000698629.1:n.2122A=
ENST00000698630.1:n.2566A=
ENST00000698631.1:n.2567A=
ENST00000698632.1:n.3456A=
ENST00000698633.1:n.3346A=
ENST00000425368.7:c.1850A= MANE Select	ENSP00000416561.2:p.Gln617=
ENST00000425368.6:c.1850A=	ENSP00000416561.2:p.Gln617=
ENST00000456570.5:c.3356A=	ENSP00000410815.1:p.Gln1119=
ENST00000467360.1:n.976A=
ENST00000477310.1:c.2903A=	ENSP00000418996.1:p.Gln968=
ENST00000482312.1:n.66A=
ENST00000483004.1:c.472A=
NM_001710.5:c.1850A= , LRG_136t1:c.1850A=	NP_001701.2:p.Gln617=
NM_001710.6:c.1850A= MANE Select	NP_001701.2:p.Gln617=