Canonical Allele Identifier: CA1619374693
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946378A= , CM000668.2:g.31946378A= GRCh38
NC_000006.11:g.31914155A= , CM000668.1:g.31914155A= GRCh37
NC_000006.10:g.32022134A= NCBI36
NG_008191.1:g.5435A= , LRG_136:g.5435A=
NG_011730.1:g.23890A= , LRG_26:g.23890A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.247A=
ENST00000483004.2:c.70A= ENSP00000419887.2:p.Thr24=
ENST00000497841.6:c.70A= ENSP00000513847.1:p.Thr24=
ENST00000698628.1:c.70A= ENSP00000513848.1:p.Thr24=
ENST00000698629.1:n.247A=
ENST00000698630.1:n.231A=
ENST00000698631.1:n.226A=
ENST00000698632.1:n.198A=
ENST00000698633.1:n.168A=
ENST00000698636.1:n.292A=
ENST00000425368.7:c.70A= MANE Select ENSP00000416561.2:p.Thr24=
ENST00000425368.6:c.70A= ENSP00000416561.2:p.Thr24=
ENST00000452035.6:n.70A=
ENST00000456570.5:c.1576A= ENSP00000410815.1:p.Thr526=
ENST00000460718.5:c.64+93A= ENSP00000417793.1:n.64+93A=
ENST00000472581.1:n.317A=
ENST00000475617.5:c.70A= ENSP00000420090.1:p.Thr24=
ENST00000477310.1:c.1352-629A= ENSP00000418996.1:n.1352-629A=
NM_001710.5:c.70A= , LRG_136t1:c.70A= NP_001701.2:p.Thr24=
NM_001710.6:c.70A= MANE Select NP_001701.2:p.Thr24=