Canonical Allele Identifier: CA1619375009

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946742C= , CM000668.2:g.31946742C=	GRCh38
NC_000006.11:g.31914519C= , CM000668.1:g.31914519C=	GRCh37
NC_000006.10:g.32022498C=	NCBI36
NG_008191.1:g.5799C= , LRG_136:g.5799C=
NG_011730.1:g.24254C= , LRG_26:g.24254C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.475+136C=
ENST00000483004.2:c.298+136C=	ENSP00000419887.2:n.298+136C=
ENST00000497841.6:c.298+136C=	ENSP00000513847.1:n.298+136C=
ENST00000698628.1:c.298+136C=	ENSP00000513848.1:n.298+136C=
ENST00000698629.1:n.475+136C=
ENST00000698630.1:n.595C=
ENST00000698631.1:n.590C=
ENST00000698632.1:n.562C=
ENST00000698633.1:n.532C=
ENST00000698636.1:n.520+136C=
ENST00000425368.7:c.298+136C= MANE Select	ENSP00000416561.2:n.298+136C=
ENST00000425368.6:c.298+136C=	ENSP00000416561.2:n.298+136C=
ENST00000452035.6:n.298+136C=
ENST00000456570.5:c.1804+136C=	ENSP00000410815.1:n.1804+136C=
ENST00000460718.5:c.185+136C=	ENSP00000417793.1:n.185+136C=
ENST00000472581.1:n.681C=
ENST00000475617.5:c.298+136C=	ENSP00000420090.1:n.298+136C=
ENST00000477310.1:c.1352-265C=	ENSP00000418996.1:n.1352-265C=
NM_001710.5:c.298+136C= , LRG_136t1:c.298+136C=	NP_001701.2:n.298+136C=
NM_001710.6:c.298+136C= MANE Select	NP_001701.2:n.298+136C=