Canonical Allele Identifier: CA1619374879

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946607G= , CM000668.2:g.31946607G=	GRCh38
NC_000006.11:g.31914384G= , CM000668.1:g.31914384G=	GRCh37
NC_000006.10:g.32022363G=	NCBI36
NG_008191.1:g.5664G= , LRG_136:g.5664G=
NG_011730.1:g.24119G= , LRG_26:g.24119G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.475+1G=
ENST00000483004.2:c.298+1G=	ENSP00000419887.2:n.298+1G=
ENST00000497841.6:c.298+1G=	ENSP00000513847.1:n.298+1G=
ENST00000698628.1:c.298+1G=	ENSP00000513848.1:n.298+1G=
ENST00000698629.1:n.475+1G=
ENST00000698630.1:n.460G=
ENST00000698631.1:n.455G=
ENST00000698632.1:n.427G=
ENST00000698633.1:n.397G=
ENST00000698636.1:n.520+1G=
ENST00000425368.7:c.298+1G= MANE Select	ENSP00000416561.2:n.298+1G=
ENST00000425368.6:c.298+1G=	ENSP00000416561.2:n.298+1G=
ENST00000452035.6:n.298+1G=
ENST00000456570.5:c.1804+1G=	ENSP00000410815.1:n.1804+1G=
ENST00000460718.5:c.185+1G=	ENSP00000417793.1:n.185+1G=
ENST00000472581.1:n.546G=
ENST00000475617.5:c.298+1G=	ENSP00000420090.1:n.298+1G=
ENST00000477310.1:c.1352-400G=	ENSP00000418996.1:n.1352-400G=
NM_001710.5:c.298+1G= , LRG_136t1:c.298+1G=	NP_001701.2:n.298+1G=
NM_001710.6:c.298+1G= MANE Select	NP_001701.2:n.298+1G=