Canonical Allele Identifier: CA1619374870
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946605A= , CM000668.2:g.31946605A= GRCh38
NC_000006.11:g.31914382A= , CM000668.1:g.31914382A= GRCh37
NC_000006.10:g.32022361A= NCBI36
NG_008191.1:g.5662A= , LRG_136:g.5662A=
NG_011730.1:g.24117A= , LRG_26:g.24117A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.474A=
ENST00000483004.2:c.297A= ENSP00000419887.2:p.Arg99=
ENST00000497841.6:c.297A= ENSP00000513847.1:p.Arg99=
ENST00000698628.1:c.297A= ENSP00000513848.1:p.Arg99=
ENST00000698629.1:n.474A=
ENST00000698630.1:n.458A=
ENST00000698631.1:n.453A=
ENST00000698632.1:n.425A=
ENST00000698633.1:n.395A=
ENST00000698636.1:n.519A=
ENST00000425368.7:c.297A= MANE Select ENSP00000416561.2:p.Arg99=
ENST00000425368.6:c.297A= ENSP00000416561.2:p.Arg99=
ENST00000452035.6:n.297A=
ENST00000456570.5:c.1803A= ENSP00000410815.1:p.Arg601=
ENST00000460718.5:c.184A= ENSP00000417793.1:p.Ser62=
ENST00000472581.1:n.544A=
ENST00000475617.5:c.297A= ENSP00000420090.1:p.Arg99=
ENST00000477310.1:c.1352-402A= ENSP00000418996.1:n.1352-402A=
NM_001710.5:c.297A= , LRG_136t1:c.297A= NP_001701.2:p.Arg99=
NM_001710.6:c.297A= MANE Select NP_001701.2:p.Arg99=