Canonical Allele Identifier: CA1619374762
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946457G= , CM000668.2:g.31946457G= GRCh38
NC_000006.11:g.31914234G= , CM000668.1:g.31914234G= GRCh37
NC_000006.10:g.32022213G= NCBI36
NG_008191.1:g.5514G= , LRG_136:g.5514G=
NG_011730.1:g.23969G= , LRG_26:g.23969G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.326G=
ENST00000483004.2:c.149G= ENSP00000419887.2:p.Arg50=
ENST00000497841.6:c.149G= ENSP00000513847.1:p.Arg50=
ENST00000698628.1:c.149G= ENSP00000513848.1:p.Arg50=
ENST00000698629.1:n.326G=
ENST00000698630.1:n.310G=
ENST00000698631.1:n.305G=
ENST00000698632.1:n.277G=
ENST00000698633.1:n.247G=
ENST00000698636.1:n.371G=
ENST00000425368.7:c.149G= MANE Select ENSP00000416561.2:p.Arg50=
ENST00000425368.6:c.149G= ENSP00000416561.2:p.Arg50=
ENST00000452035.6:n.149G=
ENST00000456570.5:c.1655G= ENSP00000410815.1:p.Arg552=
ENST00000460718.5:c.65-29G= ENSP00000417793.1:n.65-29G=
ENST00000472581.1:n.396G=
ENST00000475617.5:c.149G= ENSP00000420090.1:p.Arg50=
ENST00000477310.1:c.1352-550G= ENSP00000418996.1:n.1352-550G=
NM_001710.5:c.149G= , LRG_136t1:c.149G= NP_001701.2:p.Arg50=
NM_001710.6:c.149G= MANE Select NP_001701.2:p.Arg50=