Canonical Allele Identifier: CA1619379314
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951555G= , CM000668.2:g.31951555G= GRCh38
NC_000006.11:g.31919332G= , CM000668.1:g.31919332G= GRCh37
NC_000006.10:g.32027311G= NCBI36
NG_008191.1:g.10612G= , LRG_136:g.10612G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2524G=
ENST00000483004.2:c.1874G= ENSP00000419887.2:p.Gly625=
ENST00000698628.1:c.1859G= ENSP00000513848.1:p.Gly620=
ENST00000698629.1:n.2309G=
ENST00000698630.1:n.2806G=
ENST00000698631.1:n.2807G=
ENST00000698632.1:n.3895G=
ENST00000698633.1:n.3785G=
ENST00000425368.7:c.2090G= MANE Select ENSP00000416561.2:p.Gly697=
ENST00000425368.6:c.2090G= ENSP00000416561.2:p.Gly697=
ENST00000456570.5:c.3596G= ENSP00000410815.1:p.Gly1199=
ENST00000477310.1:c.3143G= ENSP00000418996.1:p.Gly1048=
ENST00000482312.1:n.505G=
ENST00000483004.1:c.712G=
ENST00000498317.1:c.60G=
NM_001710.5:c.2090G= , LRG_136t1:c.2090G= NP_001701.2:p.Gly697=
NM_001710.6:c.2090G= MANE Select NP_001701.2:p.Gly697=