Canonical Allele Identifier: CA363410416
Gene: CFB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951142A>T , CM000668.2:g.31951142A>T GRCh38
NC_000006.11:g.31918919A>T , CM000668.1:g.31918919A>T GRCh37
NC_000006.10:g.32026898A>T NCBI36
NG_008191.1:g.10199A>T , LRG_136:g.10199A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2343-55A>T
ENST00000483004.2:c.1640-2A>T ENSP00000419887.2:n.1640-2A>T
ENST00000698628.1:c.1625-2A>T ENSP00000513848.1:n.1625-2A>T
ENST00000698629.1:n.2128-55A>T
ENST00000698630.1:n.2572-2A>T
ENST00000698631.1:n.2573-2A>T
ENST00000698632.1:n.3659A>T
ENST00000698633.1:n.3549A>T
ENST00000425368.7:c.1856-2A>T MANE Select ENSP00000416561.2:n.1856-2A>T
ENST00000425368.6:c.1856-2A>T ENSP00000416561.2:n.1856-2A>T
ENST00000456570.5:c.3362-2A>T ENSP00000410815.1:n.3362-2A>T
ENST00000467360.1:n.982-2A>T
ENST00000477310.1:c.2909-2A>T ENSP00000418996.1:n.2909-2A>T
ENST00000482312.1:n.269A>T
ENST00000483004.1:c.478-2A>T
NM_001710.5:c.1856-2A>T , LRG_136t1:c.1856-2A>T NP_001701.2:n.1856-2A>T
NM_001710.6:c.1856-2A>T MANE Select NP_001701.2:n.1856-2A>T