Canonical Allele Identifier: CA1619378821
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950988A= , CM000668.2:g.31950988A= GRCh38
NC_000006.11:g.31918765A= , CM000668.1:g.31918765A= GRCh37
NC_000006.10:g.32026744A= NCBI36
NG_008191.1:g.10045A= , LRG_136:g.10045A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2342+44A=
ENST00000483004.2:c.1639+44A= ENSP00000419887.2:n.1639+44A=
ENST00000698628.1:c.1625-156A= ENSP00000513848.1:n.1625-156A=
ENST00000698629.1:n.2127+44A=
ENST00000698630.1:n.2571+44A=
ENST00000698631.1:n.2572+44A=
ENST00000698632.1:n.3505A=
ENST00000698633.1:n.3395A=
ENST00000425368.7:c.1855+44A= MANE Select ENSP00000416561.2:n.1855+44A=
ENST00000425368.6:c.1855+44A= ENSP00000416561.2:n.1855+44A=
ENST00000456570.5:c.3361+44A= ENSP00000410815.1:n.3361+44A=
ENST00000467360.1:n.981+44A=
ENST00000477310.1:c.2908+44A= ENSP00000418996.1:n.2908+44A=
ENST00000482312.1:n.115A=
ENST00000483004.1:c.477+44A=
NM_001710.5:c.1855+44A= , LRG_136t1:c.1855+44A= NP_001701.2:n.1855+44A=
NM_001710.6:c.1855+44A= MANE Select NP_001701.2:n.1855+44A=