Canonical Allele Identifier: CA1619378856
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951053G= , CM000668.2:g.31951053G= GRCh38
NC_000006.11:g.31918830G= , CM000668.1:g.31918830G= GRCh37
NC_000006.10:g.32026809G= NCBI36
NG_008191.1:g.10110G= , LRG_136:g.10110G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2342+109G=
ENST00000483004.2:c.1640-91G= ENSP00000419887.2:n.1640-91G=
ENST00000698628.1:c.1625-91G= ENSP00000513848.1:n.1625-91G=
ENST00000698629.1:n.2127+109G=
ENST00000698630.1:n.2572-91G=
ENST00000698631.1:n.2573-91G=
ENST00000698632.1:n.3570G=
ENST00000698633.1:n.3460G=
ENST00000425368.7:c.1856-91G= MANE Select ENSP00000416561.2:n.1856-91G=
ENST00000425368.6:c.1856-91G= ENSP00000416561.2:n.1856-91G=
ENST00000456570.5:c.3362-91G= ENSP00000410815.1:n.3362-91G=
ENST00000467360.1:n.982-91G=
ENST00000477310.1:c.2909-91G= ENSP00000418996.1:n.2909-91G=
ENST00000482312.1:n.180G=
ENST00000483004.1:c.478-91G=
NM_001710.5:c.1856-91G= , LRG_136t1:c.1856-91G= NP_001701.2:n.1856-91G=
NM_001710.6:c.1856-91G= MANE Select NP_001701.2:n.1856-91G=