Canonical Allele Identifier: CA1619378841
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951026T= , CM000668.2:g.31951026T= GRCh38
NC_000006.11:g.31918803T= , CM000668.1:g.31918803T= GRCh37
NC_000006.10:g.32026782T= NCBI36
NG_008191.1:g.10083T= , LRG_136:g.10083T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2342+82T=
ENST00000483004.2:c.1639+82T= ENSP00000419887.2:n.1639+82T=
ENST00000698628.1:c.1625-118T= ENSP00000513848.1:n.1625-118T=
ENST00000698629.1:n.2127+82T=
ENST00000698630.1:n.2571+82T=
ENST00000698631.1:n.2572+82T=
ENST00000698632.1:n.3543T=
ENST00000698633.1:n.3433T=
ENST00000425368.7:c.1855+82T= MANE Select ENSP00000416561.2:n.1855+82T=
ENST00000425368.6:c.1855+82T= ENSP00000416561.2:n.1855+82T=
ENST00000456570.5:c.3361+82T= ENSP00000410815.1:n.3361+82T=
ENST00000467360.1:n.981+82T=
ENST00000477310.1:c.2908+82T= ENSP00000418996.1:n.2908+82T=
ENST00000482312.1:n.153T=
ENST00000483004.1:c.477+82T=
NM_001710.5:c.1855+82T= , LRG_136t1:c.1855+82T= NP_001701.2:n.1855+82T=
NM_001710.6:c.1855+82T= MANE Select NP_001701.2:n.1855+82T=