Canonical Allele Identifier: CA1619379447
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951740C= , CM000668.2:g.31951740C= GRCh38
NC_000006.11:g.31919517C= , CM000668.1:g.31919517C= GRCh37
NC_000006.10:g.32027496C= NCBI36
NG_008191.1:g.10797C= , LRG_136:g.10797C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2574-135C=
ENST00000483004.2:c.1924-135C= ENSP00000419887.2:n.1924-135C=
ENST00000698628.1:c.1909-135C= ENSP00000513848.1:n.1909-135C=
ENST00000698629.1:n.2359-135C=
ENST00000698630.1:n.2856-135C=
ENST00000698631.1:n.2857-135C=
ENST00000698632.1:n.3945-135C=
ENST00000698633.1:n.3835-135C=
ENST00000425368.7:c.2140-135C= MANE Select ENSP00000416561.2:n.2140-135C=
ENST00000425368.6:c.2140-135C= ENSP00000416561.2:n.2140-135C=
ENST00000456570.5:c.3646-135C= ENSP00000410815.1:n.3646-135C=
ENST00000477310.1:c.3193-135C= ENSP00000418996.1:n.3193-135C=
ENST00000482312.1:n.555-135C=
ENST00000483004.1:c.762-135C=
ENST00000498317.1:c.245C=
NM_001710.5:c.2140-135C= , LRG_136t1:c.2140-135C= NP_001701.2:n.2140-135C=
NM_001710.6:c.2140-135C= MANE Select NP_001701.2:n.2140-135C=