Canonical Allele Identifier: CA1619378604

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950750C= , CM000668.2:g.31950750C=	GRCh38
NC_000006.11:g.31918527C= , CM000668.1:g.31918527C=	GRCh37
NC_000006.10:g.32026506C=	NCBI36
NG_008191.1:g.9807C= , LRG_136:g.9807C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2148C=
ENST00000483004.2:c.1540C=	ENSP00000419887.2:p.Leu514=
ENST00000698628.1:c.1624+347C=	ENSP00000513848.1:n.1624+347C=
ENST00000698629.1:n.1933C=
ENST00000698630.1:n.2472C=
ENST00000698631.1:n.2473C=
ENST00000698632.1:n.3267C=
ENST00000698633.1:n.3157C=
ENST00000698636.1:n.1978C=
ENST00000425368.7:c.1756C= MANE Select	ENSP00000416561.2:p.Leu586=
ENST00000425368.6:c.1756C=	ENSP00000416561.2:p.Leu586=
ENST00000456570.5:c.3262C=	ENSP00000410815.1:p.Leu1088=
ENST00000467360.1:n.882C=
ENST00000477310.1:c.2809C=	ENSP00000418996.1:p.Leu937=
ENST00000483004.1:c.378C=
NM_001710.5:c.1756C= , LRG_136t1:c.1756C=	NP_001701.2:p.Leu586=
NM_001710.6:c.1756C= MANE Select	NP_001701.2:p.Leu586=