Canonical Allele Identifier: CA1619379307
Gene: CFB HGNC NCBI

Linked Data

dbSNP Id: rs1771769646

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951545C>G , CM000668.2:g.31951545C>G GRCh38
NC_000006.11:g.31919322C>G , CM000668.1:g.31919322C>G GRCh37
NC_000006.10:g.32027301C>G NCBI36
NG_008191.1:g.10602C>G , LRG_136:g.10602C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2524-10C>G
ENST00000483004.2:c.1874-10C>G ENSP00000419887.2:n.1874-10C>G
ENST00000698628.1:c.1859-10C>G ENSP00000513848.1:n.1859-10C>G
ENST00000698629.1:n.2309-10C>G
ENST00000698630.1:n.2806-10C>G
ENST00000698631.1:n.2807-10C>G
ENST00000698632.1:n.3895-10C>G
ENST00000698633.1:n.3785-10C>G
ENST00000425368.7:c.2090-10C>G MANE Select ENSP00000416561.2:n.2090-10C>G
ENST00000425368.6:c.2090-10C>G ENSP00000416561.2:n.2090-10C>G
ENST00000456570.5:c.3596-10C>G ENSP00000410815.1:n.3596-10C>G
ENST00000477310.1:c.3143-10C>G ENSP00000418996.1:n.3143-10C>G
ENST00000482312.1:n.505-10C>G
ENST00000483004.1:c.712-10C>G
ENST00000498317.1:c.60-10C>G
NM_001710.5:c.2090-10C>G , LRG_136t1:c.2090-10C>G NP_001701.2:n.2090-10C>G
NM_001710.6:c.2090-10C>G MANE Select NP_001701.2:n.2090-10C>G