Canonical Allele Identifier: CA1619378833
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951017A= , CM000668.2:g.31951017A= GRCh38
NC_000006.11:g.31918794A= , CM000668.1:g.31918794A= GRCh37
NC_000006.10:g.32026773A= NCBI36
NG_008191.1:g.10074A= , LRG_136:g.10074A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2342+73A=
ENST00000483004.2:c.1639+73A= ENSP00000419887.2:n.1639+73A=
ENST00000698628.1:c.1625-127A= ENSP00000513848.1:n.1625-127A=
ENST00000698629.1:n.2127+73A=
ENST00000698630.1:n.2571+73A=
ENST00000698631.1:n.2572+73A=
ENST00000698632.1:n.3534A=
ENST00000698633.1:n.3424A=
ENST00000425368.7:c.1855+73A= MANE Select ENSP00000416561.2:n.1855+73A=
ENST00000425368.6:c.1855+73A= ENSP00000416561.2:n.1855+73A=
ENST00000456570.5:c.3361+73A= ENSP00000410815.1:n.3361+73A=
ENST00000467360.1:n.981+73A=
ENST00000477310.1:c.2908+73A= ENSP00000418996.1:n.2908+73A=
ENST00000482312.1:n.144A=
ENST00000483004.1:c.477+73A=
NM_001710.5:c.1855+73A= , LRG_136t1:c.1855+73A= NP_001701.2:n.1855+73A=
NM_001710.6:c.1855+73A= MANE Select NP_001701.2:n.1855+73A=