Canonical Allele Identifier: CA363408942
Gene: CFB HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2086A>G
ENST00000483004.2:c.1478A>G ENSP00000419887.2:p.Lys493Arg
ENST00000698628.1:c.1624+285A>G ENSP00000513848.1:n.1624+285A>G
ENST00000698629.1:n.1871A>G
ENST00000698630.1:n.2410A>G
ENST00000698631.1:n.2411A>G
ENST00000698632.1:n.3205A>G
ENST00000698633.1:n.3095A>G
ENST00000698636.1:n.1916A>G
ENST00000425368.7:c.1694A>G MANE Select ENSP00000416561.2:p.Lys565Arg
ENST00000425368.6:c.1694A>G ENSP00000416561.2:p.Lys565Arg
ENST00000456570.5:c.3200A>G ENSP00000410815.1:p.Lys1067Arg
ENST00000467360.1:n.820A>G
ENST00000477310.1:c.2747A>G ENSP00000418996.1:p.Lys916Arg
ENST00000483004.1:c.316A>G
NM_001710.5:c.1694A>G , LRG_136t1:c.1694A>G NP_001701.2:p.Lys565Arg
NM_001710.6:c.1694A>G MANE Select NP_001701.2:p.Lys565Arg