Canonical Allele Identifier: CA1619378619

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950763A= , CM000668.2:g.31950763A=	GRCh38
NC_000006.11:g.31918540A= , CM000668.1:g.31918540A=	GRCh37
NC_000006.10:g.32026519A=	NCBI36
NG_008191.1:g.9820A= , LRG_136:g.9820A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2161A=
ENST00000483004.2:c.1553A=	ENSP00000419887.2:p.Gln518=
ENST00000698628.1:c.1624+360A=	ENSP00000513848.1:n.1624+360A=
ENST00000698629.1:n.1946A=
ENST00000698630.1:n.2485A=
ENST00000698631.1:n.2486A=
ENST00000698632.1:n.3280A=
ENST00000698633.1:n.3170A=
ENST00000698636.1:n.1991A=
ENST00000425368.7:c.1769A= MANE Select	ENSP00000416561.2:p.Gln590=
ENST00000425368.6:c.1769A=	ENSP00000416561.2:p.Gln590=
ENST00000456570.5:c.3275A=	ENSP00000410815.1:p.Gln1092=
ENST00000467360.1:n.895A=
ENST00000477310.1:c.2822A=	ENSP00000418996.1:p.Gln941=
ENST00000483004.1:c.391A=
NM_001710.5:c.1769A= , LRG_136t1:c.1769A=	NP_001701.2:p.Gln590=
NM_001710.6:c.1769A= MANE Select	NP_001701.2:p.Gln590=