Canonical Allele Identifier: CA1619378874
Gene: CFB HGNC NCBI

Linked Data

dbSNP Id: rs1771730812

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951081A>G , CM000668.2:g.31951081A>G GRCh38
NC_000006.11:g.31918858A>G , CM000668.1:g.31918858A>G GRCh37
NC_000006.10:g.32026837A>G NCBI36
NG_008191.1:g.10138A>G , LRG_136:g.10138A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2343-116A>G
ENST00000483004.2:c.1640-63A>G ENSP00000419887.2:n.1640-63A>G
ENST00000698628.1:c.1625-63A>G ENSP00000513848.1:n.1625-63A>G
ENST00000698629.1:n.2128-116A>G
ENST00000698630.1:n.2572-63A>G
ENST00000698631.1:n.2573-63A>G
ENST00000698632.1:n.3598A>G
ENST00000698633.1:n.3488A>G
ENST00000425368.7:c.1856-63A>G MANE Select ENSP00000416561.2:n.1856-63A>G
ENST00000425368.6:c.1856-63A>G ENSP00000416561.2:n.1856-63A>G
ENST00000456570.5:c.3362-63A>G ENSP00000410815.1:n.3362-63A>G
ENST00000467360.1:n.982-63A>G
ENST00000477310.1:c.2909-63A>G ENSP00000418996.1:n.2909-63A>G
ENST00000482312.1:n.208A>G
ENST00000483004.1:c.478-63A>G
NM_001710.5:c.1856-63A>G , LRG_136t1:c.1856-63A>G NP_001701.2:n.1856-63A>G
NM_001710.6:c.1856-63A>G MANE Select NP_001701.2:n.1856-63A>G