Canonical Allele Identifier: CA1619374756
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946446C= , CM000668.2:g.31946446C= GRCh38
NC_000006.11:g.31914223C= , CM000668.1:g.31914223C= GRCh37
NC_000006.10:g.32022202C= NCBI36
NG_008191.1:g.5503C= , LRG_136:g.5503C=
NG_011730.1:g.23958C= , LRG_26:g.23958C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.315C=
ENST00000483004.2:c.138C= ENSP00000419887.2:p.Gly46=
ENST00000497841.6:c.138C= ENSP00000513847.1:p.Gly46=
ENST00000698628.1:c.138C= ENSP00000513848.1:p.Gly46=
ENST00000698629.1:n.315C=
ENST00000698630.1:n.299C=
ENST00000698631.1:n.294C=
ENST00000698632.1:n.266C=
ENST00000698633.1:n.236C=
ENST00000698636.1:n.360C=
ENST00000425368.7:c.138C= MANE Select ENSP00000416561.2:p.Gly46=
ENST00000425368.6:c.138C= ENSP00000416561.2:p.Gly46=
ENST00000452035.6:n.138C=
ENST00000456570.5:c.1644C= ENSP00000410815.1:p.Gly548=
ENST00000460718.5:c.65-40C= ENSP00000417793.1:n.65-40C=
ENST00000472581.1:n.385C=
ENST00000475617.5:c.138C= ENSP00000420090.1:p.Gly46=
ENST00000477310.1:c.1352-561C= ENSP00000418996.1:n.1352-561C=
NM_001710.5:c.138C= , LRG_136t1:c.138C= NP_001701.2:p.Gly46=
NM_001710.6:c.138C= MANE Select NP_001701.2:p.Gly46=