Canonical Allele Identifier: CA1619378843
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951030G= , CM000668.2:g.31951030G= GRCh38
NC_000006.11:g.31918807G= , CM000668.1:g.31918807G= GRCh37
NC_000006.10:g.32026786G= NCBI36
NG_008191.1:g.10087G= , LRG_136:g.10087G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2342+86G=
ENST00000483004.2:c.1639+86G= ENSP00000419887.2:n.1639+86G=
ENST00000698628.1:c.1625-114G= ENSP00000513848.1:n.1625-114G=
ENST00000698629.1:n.2127+86G=
ENST00000698630.1:n.2571+86G=
ENST00000698631.1:n.2572+86G=
ENST00000698632.1:n.3547G=
ENST00000698633.1:n.3437G=
ENST00000425368.7:c.1855+86G= MANE Select ENSP00000416561.2:n.1855+86G=
ENST00000425368.6:c.1855+86G= ENSP00000416561.2:n.1855+86G=
ENST00000456570.5:c.3361+86G= ENSP00000410815.1:n.3361+86G=
ENST00000467360.1:n.981+86G=
ENST00000477310.1:c.2908+86G= ENSP00000418996.1:n.2908+86G=
ENST00000482312.1:n.157G=
ENST00000483004.1:c.477+86G=
NM_001710.5:c.1855+86G= , LRG_136t1:c.1855+86G= NP_001701.2:n.1855+86G=
NM_001710.6:c.1855+86G= MANE Select NP_001701.2:n.1855+86G=