Canonical Allele Identifier: CA1619378566

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950694C= , CM000668.2:g.31950694C=	GRCh38
NC_000006.11:g.31918471C= , CM000668.1:g.31918471C=	GRCh37
NC_000006.10:g.32026450C=	NCBI36
NG_008191.1:g.9751C= , LRG_136:g.9751C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2092C=
ENST00000483004.2:c.1484C=	ENSP00000419887.2:p.Ala495=
ENST00000698628.1:c.1624+291C=	ENSP00000513848.1:n.1624+291C=
ENST00000698629.1:n.1877C=
ENST00000698630.1:n.2416C=
ENST00000698631.1:n.2417C=
ENST00000698632.1:n.3211C=
ENST00000698633.1:n.3101C=
ENST00000698636.1:n.1922C=
ENST00000425368.7:c.1700C= MANE Select	ENSP00000416561.2:p.Ala567=
ENST00000425368.6:c.1700C=	ENSP00000416561.2:p.Ala567=
ENST00000456570.5:c.3206C=	ENSP00000410815.1:p.Ala1069=
ENST00000467360.1:n.826C=
ENST00000477310.1:c.2753C=	ENSP00000418996.1:p.Ala918=
ENST00000483004.1:c.322C=
NM_001710.5:c.1700C= , LRG_136t1:c.1700C=	NP_001701.2:p.Ala567=
NM_001710.6:c.1700C= MANE Select	NP_001701.2:p.Ala567=