Canonical Allele Identifier: CA1619378765
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950903G= , CM000668.2:g.31950903G= GRCh38
NC_000006.11:g.31918680G= , CM000668.1:g.31918680G= GRCh37
NC_000006.10:g.32026659G= NCBI36
NG_008191.1:g.9960G= , LRG_136:g.9960G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2301G=
ENST00000483004.2:c.1598G= ENSP00000419887.2:p.Arg533=
ENST00000698628.1:c.1625-241G= ENSP00000513848.1:n.1625-241G=
ENST00000698629.1:n.2086G=
ENST00000698630.1:n.2530G=
ENST00000698631.1:n.2531G=
ENST00000698632.1:n.3420G=
ENST00000698633.1:n.3310G=
ENST00000425368.7:c.1814G= MANE Select ENSP00000416561.2:p.Arg605=
ENST00000425368.6:c.1814G= ENSP00000416561.2:p.Arg605=
ENST00000456570.5:c.3320G= ENSP00000410815.1:p.Arg1107=
ENST00000467360.1:n.940G=
ENST00000477310.1:c.2867G= ENSP00000418996.1:p.Arg956=
ENST00000482312.1:n.30G=
ENST00000483004.1:c.436G=
NM_001710.5:c.1814G= , LRG_136t1:c.1814G= NP_001701.2:p.Arg605=
NM_001710.6:c.1814G= MANE Select NP_001701.2:p.Arg605=