Canonical Allele Identifier: CA1619374912
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946631G= , CM000668.2:g.31946631G= GRCh38
NC_000006.11:g.31914408G= , CM000668.1:g.31914408G= GRCh37
NC_000006.10:g.32022387G= NCBI36
NG_008191.1:g.5688G= , LRG_136:g.5688G=
NG_011730.1:g.24143G= , LRG_26:g.24143G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.475+25G=
ENST00000483004.2:c.298+25G= ENSP00000419887.2:n.298+25G=
ENST00000497841.6:c.298+25G= ENSP00000513847.1:n.298+25G=
ENST00000698628.1:c.298+25G= ENSP00000513848.1:n.298+25G=
ENST00000698629.1:n.475+25G=
ENST00000698630.1:n.484G=
ENST00000698631.1:n.479G=
ENST00000698632.1:n.451G=
ENST00000698633.1:n.421G=
ENST00000698636.1:n.520+25G=
ENST00000425368.7:c.298+25G= MANE Select ENSP00000416561.2:n.298+25G=
ENST00000425368.6:c.298+25G= ENSP00000416561.2:n.298+25G=
ENST00000452035.6:n.298+25G=
ENST00000456570.5:c.1804+25G= ENSP00000410815.1:n.1804+25G=
ENST00000460718.5:c.185+25G= ENSP00000417793.1:n.185+25G=
ENST00000472581.1:n.570G=
ENST00000475617.5:c.298+25G= ENSP00000420090.1:n.298+25G=
ENST00000477310.1:c.1352-376G= ENSP00000418996.1:n.1352-376G=
NM_001710.5:c.298+25G= , LRG_136t1:c.298+25G= NP_001701.2:n.298+25G=
NM_001710.6:c.298+25G= MANE Select NP_001701.2:n.298+25G=