Canonical Allele Identifier: CA1619378341
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950447A= , CM000668.2:g.31950447A= GRCh38
NC_000006.11:g.31918224A= , CM000668.1:g.31918224A= GRCh37
NC_000006.10:g.32026203A= NCBI36
NG_008191.1:g.9504A= , LRG_136:g.9504A=

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.1845A=
ENST00000483004.2:c.1409-172A= ENSP00000419887.2:n.1409-172A=
ENST00000698628.1:c.1624+44A= ENSP00000513848.1:n.1624+44A=
ENST00000698629.1:n.1801+44A=
ENST00000698630.1:n.2340+44A=
ENST00000698631.1:n.2341+44A=
ENST00000698632.1:n.2964A=
ENST00000698633.1:n.2854A=
ENST00000698636.1:n.1846+44A=
ENST00000425368.7:c.1624+44A= MANE Select ENSP00000416561.2:n.1624+44A=
ENST00000425368.6:c.1624+44A= ENSP00000416561.2:n.1624+44A=
ENST00000452035.6:n.1668A=
ENST00000456570.5:c.3130+44A= ENSP00000410815.1:n.3130+44A=
ENST00000467360.1:n.579A=
ENST00000477310.1:c.2677+44A= ENSP00000418996.1:n.2677+44A=
ENST00000483004.1:c.247-172A=
NM_001710.5:c.1624+44A= , LRG_136t1:c.1624+44A= NP_001701.2:n.1624+44A=
NM_001710.6:c.1624+44A= MANE Select NP_001701.2:n.1624+44A=