Canonical Allele Identifier: CA1619374742
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946430G= , CM000668.2:g.31946430G= GRCh38
NC_000006.11:g.31914207G= , CM000668.1:g.31914207G= GRCh37
NC_000006.10:g.32022186G= NCBI36
NG_008191.1:g.5487G= , LRG_136:g.5487G=
NG_011730.1:g.23942G= , LRG_26:g.23942G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.299G=
ENST00000483004.2:c.122G= ENSP00000419887.2:p.Gly41=
ENST00000497841.6:c.122G= ENSP00000513847.1:p.Gly41=
ENST00000698628.1:c.122G= ENSP00000513848.1:p.Gly41=
ENST00000698629.1:n.299G=
ENST00000698630.1:n.283G=
ENST00000698631.1:n.278G=
ENST00000698632.1:n.250G=
ENST00000698633.1:n.220G=
ENST00000698636.1:n.344G=
ENST00000425368.7:c.122G= MANE Select ENSP00000416561.2:p.Gly41=
ENST00000425368.6:c.122G= ENSP00000416561.2:p.Gly41=
ENST00000452035.6:n.122G=
ENST00000456570.5:c.1628G= ENSP00000410815.1:p.Gly543=
ENST00000460718.5:c.65-56G= ENSP00000417793.1:n.65-56G=
ENST00000472581.1:n.369G=
ENST00000475617.5:c.122G= ENSP00000420090.1:p.Gly41=
ENST00000477310.1:c.1352-577G= ENSP00000418996.1:n.1352-577G=
NM_001710.5:c.122G= , LRG_136t1:c.122G= NP_001701.2:p.Gly41=
NM_001710.6:c.122G= MANE Select NP_001701.2:p.Gly41=