Canonical Allele Identifier: CA1619378551

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950687A= , CM000668.2:g.31950687A=	GRCh38
NC_000006.11:g.31918464A= , CM000668.1:g.31918464A=	GRCh37
NC_000006.10:g.32026443A=	NCBI36
NG_008191.1:g.9744A= , LRG_136:g.9744A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2085A=
ENST00000483004.2:c.1477A=	ENSP00000419887.2:p.Lys493=
ENST00000698628.1:c.1624+284A=	ENSP00000513848.1:n.1624+284A=
ENST00000698629.1:n.1870A=
ENST00000698630.1:n.2409A=
ENST00000698631.1:n.2410A=
ENST00000698632.1:n.3204A=
ENST00000698633.1:n.3094A=
ENST00000698636.1:n.1915A=
ENST00000425368.7:c.1693A= MANE Select	ENSP00000416561.2:p.Lys565=
ENST00000425368.6:c.1693A=	ENSP00000416561.2:p.Lys565=
ENST00000456570.5:c.3199A=	ENSP00000410815.1:p.Lys1067=
ENST00000467360.1:n.819A=
ENST00000477310.1:c.2746A=	ENSP00000418996.1:p.Lys916=
ENST00000483004.1:c.315A=
NM_001710.5:c.1693A= , LRG_136t1:c.1693A=	NP_001701.2:p.Lys565=
NM_001710.6:c.1693A= MANE Select	NP_001701.2:p.Lys565=