Canonical Allele Identifier: CA1619375027
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946773C= , CM000668.2:g.31946773C= GRCh38
NC_000006.11:g.31914550C= , CM000668.1:g.31914550C= GRCh37
NC_000006.10:g.32022529C= NCBI36
NG_008191.1:g.5830C= , LRG_136:g.5830C=
NG_011730.1:g.24285C= , LRG_26:g.24285C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.475+167C=
ENST00000483004.2:c.298+167C= ENSP00000419887.2:n.298+167C=
ENST00000497841.6:c.298+167C= ENSP00000513847.1:n.298+167C=
ENST00000698628.1:c.298+167C= ENSP00000513848.1:n.298+167C=
ENST00000698629.1:n.475+167C=
ENST00000698630.1:n.626C=
ENST00000698631.1:n.621C=
ENST00000698632.1:n.593C=
ENST00000698633.1:n.563C=
ENST00000698636.1:n.520+167C=
ENST00000425368.7:c.298+167C= MANE Select ENSP00000416561.2:n.298+167C=
ENST00000425368.6:c.298+167C= ENSP00000416561.2:n.298+167C=
ENST00000452035.6:n.298+167C=
ENST00000456570.5:c.1804+167C= ENSP00000410815.1:n.1804+167C=
ENST00000460718.5:c.185+167C= ENSP00000417793.1:n.185+167C=
ENST00000472581.1:n.712C=
ENST00000475617.5:c.298+167C= ENSP00000420090.1:n.298+167C=
ENST00000477310.1:c.1352-234C= ENSP00000418996.1:n.1352-234C=
NM_001710.5:c.298+167C= , LRG_136t1:c.298+167C= NP_001701.2:n.298+167C=
NM_001710.6:c.298+167C= MANE Select NP_001701.2:n.298+167C=