Canonical Allele Identifier: CA1619374752

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946436A= , CM000668.2:g.31946436A=	GRCh38
NC_000006.11:g.31914213A= , CM000668.1:g.31914213A=	GRCh37
NC_000006.10:g.32022192A=	NCBI36
NG_008191.1:g.5493A= , LRG_136:g.5493A=
NG_011730.1:g.23948A= , LRG_26:g.23948A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.305A=
ENST00000483004.2:c.128A=	ENSP00000419887.2:p.Glu43=
ENST00000497841.6:c.128A=	ENSP00000513847.1:p.Glu43=
ENST00000698628.1:c.128A=	ENSP00000513848.1:p.Glu43=
ENST00000698629.1:n.305A=
ENST00000698630.1:n.289A=
ENST00000698631.1:n.284A=
ENST00000698632.1:n.256A=
ENST00000698633.1:n.226A=
ENST00000698636.1:n.350A=
ENST00000425368.7:c.128A= MANE Select	ENSP00000416561.2:p.Glu43=
ENST00000425368.6:c.128A=	ENSP00000416561.2:p.Glu43=
ENST00000452035.6:n.128A=
ENST00000456570.5:c.1634A=	ENSP00000410815.1:p.Glu545=
ENST00000460718.5:c.65-50A=	ENSP00000417793.1:n.65-50A=
ENST00000472581.1:n.375A=
ENST00000475617.5:c.128A=	ENSP00000420090.1:p.Glu43=
ENST00000477310.1:c.1352-571A=	ENSP00000418996.1:n.1352-571A=
NM_001710.5:c.128A= , LRG_136t1:c.128A=	NP_001701.2:p.Glu43=
NM_001710.6:c.128A= MANE Select	NP_001701.2:p.Glu43=