Canonical Allele Identifier: CA1619378791

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950941C= , CM000668.2:g.31950941C=	GRCh38
NC_000006.11:g.31918718C= , CM000668.1:g.31918718C=	GRCh37
NC_000006.10:g.32026697C=	NCBI36
NG_008191.1:g.9998C= , LRG_136:g.9998C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2339C=
ENST00000483004.2:c.1636C=	ENSP00000419887.2:p.Gln546=
ENST00000698628.1:c.1625-203C=	ENSP00000513848.1:n.1625-203C=
ENST00000698629.1:n.2124C=
ENST00000698630.1:n.2568C=
ENST00000698631.1:n.2569C=
ENST00000698632.1:n.3458C=
ENST00000698633.1:n.3348C=
ENST00000425368.7:c.1852C= MANE Select	ENSP00000416561.2:p.Gln618=
ENST00000425368.6:c.1852C=	ENSP00000416561.2:p.Gln618=
ENST00000456570.5:c.3358C=	ENSP00000410815.1:p.Gln1120=
ENST00000467360.1:n.978C=
ENST00000477310.1:c.2905C=	ENSP00000418996.1:p.Gln969=
ENST00000482312.1:n.68C=
ENST00000483004.1:c.474C=
NM_001710.5:c.1852C= , LRG_136t1:c.1852C=	NP_001701.2:p.Gln618=
NM_001710.6:c.1852C= MANE Select	NP_001701.2:p.Gln618=