Canonical Allele Identifier: CA1619374794
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946527A= , CM000668.2:g.31946527A= GRCh38
NC_000006.11:g.31914304A= , CM000668.1:g.31914304A= GRCh37
NC_000006.10:g.32022283A= NCBI36
NG_008191.1:g.5584A= , LRG_136:g.5584A=
NG_011730.1:g.24039A= , LRG_26:g.24039A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.396A=
ENST00000483004.2:c.219A= ENSP00000419887.2:p.Thr73=
ENST00000497841.6:c.219A= ENSP00000513847.1:p.Thr73=
ENST00000698628.1:c.219A= ENSP00000513848.1:p.Thr73=
ENST00000698629.1:n.396A=
ENST00000698630.1:n.380A=
ENST00000698631.1:n.375A=
ENST00000698632.1:n.347A=
ENST00000698633.1:n.317A=
ENST00000698636.1:n.441A=
ENST00000425368.7:c.219A= MANE Select ENSP00000416561.2:p.Thr73=
ENST00000425368.6:c.219A= ENSP00000416561.2:p.Thr73=
ENST00000452035.6:n.219A=
ENST00000456570.5:c.1725A= ENSP00000410815.1:p.Thr575=
ENST00000460718.5:c.106A= ENSP00000417793.1:p.Thr36=
ENST00000472581.1:n.466A=
ENST00000475617.5:c.219A= ENSP00000420090.1:p.Thr73=
ENST00000477310.1:c.1352-480A= ENSP00000418996.1:n.1352-480A=
NM_001710.5:c.219A= , LRG_136t1:c.219A= NP_001701.2:p.Thr73=
NM_001710.6:c.219A= MANE Select NP_001701.2:p.Thr73=