Canonical Allele Identifier: CA1619378584
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950716C= , CM000668.2:g.31950716C= GRCh38
NC_000006.11:g.31918493C= , CM000668.1:g.31918493C= GRCh37
NC_000006.10:g.32026472C= NCBI36
NG_008191.1:g.9773C= , LRG_136:g.9773C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2114C=
ENST00000483004.2:c.1506C= ENSP00000419887.2:p.Asp502=
ENST00000698628.1:c.1624+313C= ENSP00000513848.1:n.1624+313C=
ENST00000698629.1:n.1899C=
ENST00000698630.1:n.2438C=
ENST00000698631.1:n.2439C=
ENST00000698632.1:n.3233C=
ENST00000698633.1:n.3123C=
ENST00000698636.1:n.1944C=
ENST00000425368.7:c.1722C= MANE Select ENSP00000416561.2:p.Asp574=
ENST00000425368.6:c.1722C= ENSP00000416561.2:p.Asp574=
ENST00000456570.5:c.3228C= ENSP00000410815.1:p.Asp1076=
ENST00000467360.1:n.848C=
ENST00000477310.1:c.2775C= ENSP00000418996.1:p.Asp925=
ENST00000483004.1:c.344C=
NM_001710.5:c.1722C= , LRG_136t1:c.1722C= NP_001701.2:p.Asp574=
NM_001710.6:c.1722C= MANE Select NP_001701.2:p.Asp574=