Canonical Allele Identifier: CA1619378761
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950894G= , CM000668.2:g.31950894G= GRCh38
NC_000006.11:g.31918671G= , CM000668.1:g.31918671G= GRCh37
NC_000006.10:g.32026650G= NCBI36
NG_008191.1:g.9951G= , LRG_136:g.9951G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2292G=
ENST00000483004.2:c.1589G= ENSP00000419887.2:p.Gly530=
ENST00000698628.1:c.1625-250G= ENSP00000513848.1:n.1625-250G=
ENST00000698629.1:n.2077G=
ENST00000698630.1:n.2521G=
ENST00000698631.1:n.2522G=
ENST00000698632.1:n.3411G=
ENST00000698633.1:n.3301G=
ENST00000425368.7:c.1805G= MANE Select ENSP00000416561.2:p.Gly602=
ENST00000425368.6:c.1805G= ENSP00000416561.2:p.Gly602=
ENST00000456570.5:c.3311G= ENSP00000410815.1:p.Gly1104=
ENST00000467360.1:n.931G=
ENST00000477310.1:c.2858G= ENSP00000418996.1:p.Gly953=
ENST00000482312.1:n.21G=
ENST00000483004.1:c.427G=
NM_001710.5:c.1805G= , LRG_136t1:c.1805G= NP_001701.2:p.Gly602=
NM_001710.6:c.1805G= MANE Select NP_001701.2:p.Gly602=