Canonical Allele Identifier: CA1619374635
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946247T= , CM000668.2:g.31946247T= GRCh38
NC_000006.11:g.31914024T= , CM000668.1:g.31914024T= GRCh37
NC_000006.10:g.32022003T= NCBI36
NG_008191.1:g.5304T= , LRG_136:g.5304T=
NG_011730.1:g.23759T= , LRG_26:g.23759T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.203T=
ENST00000483004.2:c.26T= ENSP00000419887.2:p.Leu9=
ENST00000497841.6:c.26T= ENSP00000513847.1:p.Leu9=
ENST00000698628.1:c.26T= ENSP00000513848.1:p.Leu9=
ENST00000698629.1:n.203T=
ENST00000698630.1:n.187T=
ENST00000698631.1:n.182T=
ENST00000698632.1:n.154T=
ENST00000698633.1:n.124T=
ENST00000698636.1:n.248T=
ENST00000425368.7:c.26T= MANE Select ENSP00000416561.2:p.Leu9=
ENST00000425368.6:c.26T= ENSP00000416561.2:p.Leu9=
ENST00000452035.6:n.26T=
ENST00000456570.5:c.1571-126T= ENSP00000410815.1:n.1571-126T=
ENST00000460718.5:c.26T= ENSP00000417793.1:p.Leu9=
ENST00000472581.1:n.273T=
ENST00000475617.5:c.26T= ENSP00000420090.1:p.Leu9=
ENST00000477310.1:c.1352-760T= ENSP00000418996.1:n.1352-760T=
NM_001710.5:c.26T= , LRG_136t1:c.26T= NP_001701.2:p.Leu9=
NM_001710.6:c.26T= MANE Select NP_001701.2:p.Leu9=