Canonical Allele Identifier: CA1619374630
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946244A= , CM000668.2:g.31946244A= GRCh38
NC_000006.11:g.31914021A= , CM000668.1:g.31914021A= GRCh37
NC_000006.10:g.32022000A= NCBI36
NG_008191.1:g.5301A= , LRG_136:g.5301A=
NG_011730.1:g.23756A= , LRG_26:g.23756A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.200A=
ENST00000483004.2:c.23A= ENSP00000419887.2:p.Gln8=
ENST00000497841.6:c.23A= ENSP00000513847.1:p.Gln8=
ENST00000698628.1:c.23A= ENSP00000513848.1:p.Gln8=
ENST00000698629.1:n.200A=
ENST00000698630.1:n.184A=
ENST00000698631.1:n.179A=
ENST00000698632.1:n.151A=
ENST00000698633.1:n.121A=
ENST00000698636.1:n.245A=
ENST00000425368.7:c.23A= MANE Select ENSP00000416561.2:p.Gln8=
ENST00000425368.6:c.23A= ENSP00000416561.2:p.Gln8=
ENST00000452035.6:n.23A=
ENST00000456570.5:c.1571-129A= ENSP00000410815.1:n.1571-129A=
ENST00000460718.5:c.23A= ENSP00000417793.1:p.Gln8=
ENST00000472581.1:n.270A=
ENST00000475617.5:c.23A= ENSP00000420090.1:p.Gln8=
ENST00000477310.1:c.1352-763A= ENSP00000418996.1:n.1352-763A=
NM_001710.5:c.23A= , LRG_136t1:c.23A= NP_001701.2:p.Gln8=
NM_001710.6:c.23A= MANE Select NP_001701.2:p.Gln8=