Canonical Allele Identifier: CA1619378553
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950688A= , CM000668.2:g.31950688A= GRCh38
NC_000006.11:g.31918465A= , CM000668.1:g.31918465A= GRCh37
NC_000006.10:g.32026444A= NCBI36
NG_008191.1:g.9745A= , LRG_136:g.9745A=

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2086A=
ENST00000483004.2:c.1478A= ENSP00000419887.2:p.Lys493=
ENST00000698628.1:c.1624+285A= ENSP00000513848.1:n.1624+285A=
ENST00000698629.1:n.1871A=
ENST00000698630.1:n.2410A=
ENST00000698631.1:n.2411A=
ENST00000698632.1:n.3205A=
ENST00000698633.1:n.3095A=
ENST00000698636.1:n.1916A=
ENST00000425368.7:c.1694A= MANE Select ENSP00000416561.2:p.Lys565=
ENST00000425368.6:c.1694A= ENSP00000416561.2:p.Lys565=
ENST00000456570.5:c.3200A= ENSP00000410815.1:p.Lys1067=
ENST00000467360.1:n.820A=
ENST00000477310.1:c.2747A= ENSP00000418996.1:p.Lys916=
ENST00000483004.1:c.316A=
NM_001710.5:c.1694A= , LRG_136t1:c.1694A= NP_001701.2:p.Lys565=
NM_001710.6:c.1694A= MANE Select NP_001701.2:p.Lys565=