Canonical Allele Identifier: CA1619374836
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946575C= , CM000668.2:g.31946575C= GRCh38
NC_000006.11:g.31914352C= , CM000668.1:g.31914352C= GRCh37
NC_000006.10:g.32022331C= NCBI36
NG_008191.1:g.5632C= , LRG_136:g.5632C=
NG_011730.1:g.24087C= , LRG_26:g.24087C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.444C=
ENST00000483004.2:c.267C= ENSP00000419887.2:p.Asp89=
ENST00000497841.6:c.267C= ENSP00000513847.1:p.Asp89=
ENST00000698628.1:c.267C= ENSP00000513848.1:p.Asp89=
ENST00000698629.1:n.444C=
ENST00000698630.1:n.428C=
ENST00000698631.1:n.423C=
ENST00000698632.1:n.395C=
ENST00000698633.1:n.365C=
ENST00000698636.1:n.489C=
ENST00000425368.7:c.267C= MANE Select ENSP00000416561.2:p.Asp89=
ENST00000425368.6:c.267C= ENSP00000416561.2:p.Asp89=
ENST00000452035.6:n.267C=
ENST00000456570.5:c.1773C= ENSP00000410815.1:p.Asp591=
ENST00000460718.5:c.154C= ENSP00000417793.1:p.Pro52=
ENST00000472581.1:n.514C=
ENST00000475617.5:c.267C= ENSP00000420090.1:p.Asp89=
ENST00000477310.1:c.1352-432C= ENSP00000418996.1:n.1352-432C=
NM_001710.5:c.267C= , LRG_136t1:c.267C= NP_001701.2:p.Asp89=
NM_001710.6:c.267C= MANE Select NP_001701.2:p.Asp89=