Canonical Allele Identifier: CA1619378587
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950717T= , CM000668.2:g.31950717T= GRCh38
NC_000006.11:g.31918494T= , CM000668.1:g.31918494T= GRCh37
NC_000006.10:g.32026473T= NCBI36
NG_008191.1:g.9774T= , LRG_136:g.9774T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2115T=
ENST00000483004.2:c.1507T= ENSP00000419887.2:p.Tyr503=
ENST00000698628.1:c.1624+314T= ENSP00000513848.1:n.1624+314T=
ENST00000698629.1:n.1900T=
ENST00000698630.1:n.2439T=
ENST00000698631.1:n.2440T=
ENST00000698632.1:n.3234T=
ENST00000698633.1:n.3124T=
ENST00000698636.1:n.1945T=
ENST00000425368.7:c.1723T= MANE Select ENSP00000416561.2:p.Tyr575=
ENST00000425368.6:c.1723T= ENSP00000416561.2:p.Tyr575=
ENST00000456570.5:c.3229T= ENSP00000410815.1:p.Tyr1077=
ENST00000467360.1:n.849T=
ENST00000477310.1:c.2776T= ENSP00000418996.1:p.Tyr926=
ENST00000483004.1:c.345T=
NM_001710.5:c.1723T= , LRG_136t1:c.1723T= NP_001701.2:p.Tyr575=
NM_001710.6:c.1723T= MANE Select NP_001701.2:p.Tyr575=