Canonical Allele Identifier: CA1619378365
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950481T= , CM000668.2:g.31950481T= GRCh38
NC_000006.11:g.31918258T= , CM000668.1:g.31918258T= GRCh37
NC_000006.10:g.32026237T= NCBI36
NG_008191.1:g.9538T= , LRG_136:g.9538T=

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.1879T=
ENST00000483004.2:c.1409-138T= ENSP00000419887.2:n.1409-138T=
ENST00000698628.1:c.1624+78T= ENSP00000513848.1:n.1624+78T=
ENST00000698629.1:n.1801+78T=
ENST00000698630.1:n.2340+78T=
ENST00000698631.1:n.2341+78T=
ENST00000698632.1:n.2998T=
ENST00000698633.1:n.2888T=
ENST00000698636.1:n.1846+78T=
ENST00000425368.7:c.1624+78T= MANE Select ENSP00000416561.2:n.1624+78T=
ENST00000425368.6:c.1624+78T= ENSP00000416561.2:n.1624+78T=
ENST00000452035.6:n.1702T=
ENST00000456570.5:c.3130+78T= ENSP00000410815.1:n.3130+78T=
ENST00000467360.1:n.613T=
ENST00000477310.1:c.2677+78T= ENSP00000418996.1:n.2677+78T=
ENST00000483004.1:c.247-138T=
NM_001710.5:c.1624+78T= , LRG_136t1:c.1624+78T= NP_001701.2:n.1624+78T=
NM_001710.6:c.1624+78T= MANE Select NP_001701.2:n.1624+78T=