Canonical Allele Identifier: CA1619374703

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946397T= , CM000668.2:g.31946397T=	GRCh38
NC_000006.11:g.31914174T= , CM000668.1:g.31914174T=	GRCh37
NC_000006.10:g.32022153T=	NCBI36
NG_008191.1:g.5454T= , LRG_136:g.5454T=
NG_011730.1:g.23909T= , LRG_26:g.23909T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.266T=
ENST00000483004.2:c.89T=	ENSP00000419887.2:p.Leu30=
ENST00000497841.6:c.89T=	ENSP00000513847.1:p.Leu30=
ENST00000698628.1:c.89T=	ENSP00000513848.1:p.Leu30=
ENST00000698629.1:n.266T=
ENST00000698630.1:n.250T=
ENST00000698631.1:n.245T=
ENST00000698632.1:n.217T=
ENST00000698633.1:n.187T=
ENST00000698636.1:n.311T=
ENST00000425368.7:c.89T= MANE Select	ENSP00000416561.2:p.Leu30=
ENST00000425368.6:c.89T=	ENSP00000416561.2:p.Leu30=
ENST00000452035.6:n.89T=
ENST00000456570.5:c.1595T=	ENSP00000410815.1:p.Leu532=
ENST00000460718.5:c.65-89T=	ENSP00000417793.1:n.65-89T=
ENST00000472581.1:n.336T=
ENST00000475617.5:c.89T=	ENSP00000420090.1:p.Leu30=
ENST00000477310.1:c.1352-610T=	ENSP00000418996.1:n.1352-610T=
NM_001710.5:c.89T= , LRG_136t1:c.89T=	NP_001701.2:p.Leu30=
NM_001710.6:c.89T= MANE Select	NP_001701.2:p.Leu30=