Canonical Allele Identifier: CA1619374729

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946420T= , CM000668.2:g.31946420T=	GRCh38
NC_000006.11:g.31914197T= , CM000668.1:g.31914197T=	GRCh37
NC_000006.10:g.32022176T=	NCBI36
NG_008191.1:g.5477T= , LRG_136:g.5477T=
NG_011730.1:g.23932T= , LRG_26:g.23932T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.289T=
ENST00000483004.2:c.112T=	ENSP00000419887.2:p.Ser38=
ENST00000497841.6:c.112T=	ENSP00000513847.1:p.Ser38=
ENST00000698628.1:c.112T=	ENSP00000513848.1:p.Ser38=
ENST00000698629.1:n.289T=
ENST00000698630.1:n.273T=
ENST00000698631.1:n.268T=
ENST00000698632.1:n.240T=
ENST00000698633.1:n.210T=
ENST00000698636.1:n.334T=
ENST00000425368.7:c.112T= MANE Select	ENSP00000416561.2:p.Ser38=
ENST00000425368.6:c.112T=	ENSP00000416561.2:p.Ser38=
ENST00000452035.6:n.112T=
ENST00000456570.5:c.1618T=	ENSP00000410815.1:p.Ser540=
ENST00000460718.5:c.65-66T=	ENSP00000417793.1:n.65-66T=
ENST00000472581.1:n.359T=
ENST00000475617.5:c.112T=	ENSP00000420090.1:p.Ser38=
ENST00000477310.1:c.1352-587T=	ENSP00000418996.1:n.1352-587T=
NM_001710.5:c.112T= , LRG_136t1:c.112T=	NP_001701.2:p.Ser38=
NM_001710.6:c.112T= MANE Select	NP_001701.2:p.Ser38=