Canonical Allele Identifier: CA1619379292
Gene: CFB HGNC NCBI

Linked Data

dbSNP Id: rs1771768357

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951524C>G , CM000668.2:g.31951524C>G GRCh38
NC_000006.11:g.31919301C>G , CM000668.1:g.31919301C>G GRCh37
NC_000006.10:g.32027280C>G NCBI36
NG_008191.1:g.10581C>G , LRG_136:g.10581C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2524-31C>G
ENST00000483004.2:c.1874-31C>G ENSP00000419887.2:n.1874-31C>G
ENST00000698628.1:c.1859-31C>G ENSP00000513848.1:n.1859-31C>G
ENST00000698629.1:n.2309-31C>G
ENST00000698630.1:n.2806-31C>G
ENST00000698631.1:n.2807-31C>G
ENST00000698632.1:n.3895-31C>G
ENST00000698633.1:n.3785-31C>G
ENST00000425368.7:c.2090-31C>G MANE Select ENSP00000416561.2:n.2090-31C>G
ENST00000425368.6:c.2090-31C>G ENSP00000416561.2:n.2090-31C>G
ENST00000456570.5:c.3596-31C>G ENSP00000410815.1:n.3596-31C>G
ENST00000477310.1:c.3143-31C>G ENSP00000418996.1:n.3143-31C>G
ENST00000482312.1:n.505-31C>G
ENST00000483004.1:c.712-31C>G
ENST00000498317.1:c.60-31C>G
NM_001710.5:c.2090-31C>G , LRG_136t1:c.2090-31C>G NP_001701.2:n.2090-31C>G
NM_001710.6:c.2090-31C>G MANE Select NP_001701.2:n.2090-31C>G