Canonical Allele Identifier: CA1619378645
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950780C= , CM000668.2:g.31950780C= GRCh38
NC_000006.11:g.31918557C= , CM000668.1:g.31918557C= GRCh37
NC_000006.10:g.32026536C= NCBI36
NG_008191.1:g.9837C= , LRG_136:g.9837C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2178C=
ENST00000483004.2:c.1562+8C= ENSP00000419887.2:n.1562+8C=
ENST00000698628.1:c.1625-364C= ENSP00000513848.1:n.1625-364C=
ENST00000698629.1:n.1963C=
ENST00000698630.1:n.2494+8C=
ENST00000698631.1:n.2495+8C=
ENST00000698632.1:n.3297C=
ENST00000698633.1:n.3187C=
ENST00000698636.1:n.2008C=
ENST00000425368.7:c.1778+8C= MANE Select ENSP00000416561.2:n.1778+8C=
ENST00000425368.6:c.1778+8C= ENSP00000416561.2:n.1778+8C=
ENST00000456570.5:c.3284+8C= ENSP00000410815.1:n.3284+8C=
ENST00000467360.1:n.904+8C=
ENST00000477310.1:c.2831+8C= ENSP00000418996.1:n.2831+8C=
ENST00000483004.1:c.400+8C=
NM_001710.5:c.1778+8C= , LRG_136t1:c.1778+8C= NP_001701.2:n.1778+8C=
NM_001710.6:c.1778+8C= MANE Select NP_001701.2:n.1778+8C=