Canonical Allele Identifier: CA1619378520
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950644A= , CM000668.2:g.31950644A= GRCh38
NC_000006.11:g.31918421A= , CM000668.1:g.31918421A= GRCh37
NC_000006.10:g.32026400A= NCBI36
NG_008191.1:g.9701A= , LRG_136:g.9701A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2042A=
ENST00000483004.2:c.1434A= ENSP00000419887.2:p.Ile478=
ENST00000698628.1:c.1624+241A= ENSP00000513848.1:n.1624+241A=
ENST00000698629.1:n.1827A=
ENST00000698630.1:n.2366A=
ENST00000698631.1:n.2367A=
ENST00000698632.1:n.3161A=
ENST00000698633.1:n.3051A=
ENST00000698636.1:n.1872A=
ENST00000425368.7:c.1650A= MANE Select ENSP00000416561.2:p.Ile550=
ENST00000425368.6:c.1650A= ENSP00000416561.2:p.Ile550=
ENST00000452035.6:n.1865A=
ENST00000456570.5:c.3156A= ENSP00000410815.1:p.Ile1052=
ENST00000467360.1:n.776A=
ENST00000477310.1:c.2703A= ENSP00000418996.1:p.Ile901=
ENST00000483004.1:c.272A=
NM_001710.5:c.1650A= , LRG_136t1:c.1650A= NP_001701.2:p.Ile550=
NM_001710.6:c.1650A= MANE Select NP_001701.2:p.Ile550=