Canonical Allele Identifier: CA1619378741

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950869C= , CM000668.2:g.31950869C=	GRCh38
NC_000006.11:g.31918646C= , CM000668.1:g.31918646C=	GRCh37
NC_000006.10:g.32026625C=	NCBI36
NG_008191.1:g.9926C= , LRG_136:g.9926C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2267C=
ENST00000483004.2:c.1564C=	ENSP00000419887.2:p.Pro522=
ENST00000698628.1:c.1625-275C=	ENSP00000513848.1:n.1625-275C=
ENST00000698629.1:n.2052C=
ENST00000698630.1:n.2496C=
ENST00000698631.1:n.2497C=
ENST00000698632.1:n.3386C=
ENST00000698633.1:n.3276C=
ENST00000425368.7:c.1780C= MANE Select	ENSP00000416561.2:p.Pro594=
ENST00000425368.6:c.1780C=	ENSP00000416561.2:p.Pro594=
ENST00000456570.5:c.3286C=	ENSP00000410815.1:p.Pro1096=
ENST00000467360.1:n.906C=
ENST00000477310.1:c.2833C=	ENSP00000418996.1:p.Pro945=
ENST00000483004.1:c.402C=
NM_001710.5:c.1780C= , LRG_136t1:c.1780C=	NP_001701.2:p.Pro594=
NM_001710.6:c.1780C= MANE Select	NP_001701.2:p.Pro594=