Canonical Allele Identifier: CA3727959
Gene: CFB HGNC NCBI

Linked Data

ClinVar Variation Id: 1422280
ClinVar RCV Id: RCV001919454
dbSNP Id: rs769314843
gnomAD v2: 6-31914234-G-A
gnomAD v3: 6-31946457-G-A
gnomAD v4: 6-31946457-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946457G>A , CM000668.2:g.31946457G>A GRCh38
NC_000006.11:g.31914234G>A , CM000668.1:g.31914234G>A GRCh37
NC_000006.10:g.32022213G>A NCBI36
NG_008191.1:g.5514G>A , LRG_136:g.5514G>A
NG_011730.1:g.23969G>A , LRG_26:g.23969G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.326G>A
ENST00000483004.2:c.149G>A ENSP00000419887.2:p.Arg50Gln
ENST00000497841.6:c.149G>A ENSP00000513847.1:p.Arg50Gln
ENST00000698628.1:c.149G>A ENSP00000513848.1:p.Arg50Gln
ENST00000698629.1:n.326G>A
ENST00000698630.1:n.310G>A
ENST00000698631.1:n.305G>A
ENST00000698632.1:n.277G>A
ENST00000698633.1:n.247G>A
ENST00000698636.1:n.371G>A
ENST00000425368.7:c.149G>A MANE Select ENSP00000416561.2:p.Arg50Gln
ENST00000425368.6:c.149G>A ENSP00000416561.2:p.Arg50Gln
ENST00000452035.6:n.149G>A
ENST00000456570.5:c.1655G>A ENSP00000410815.1:p.Arg552Gln
ENST00000460718.5:c.65-29G>A ENSP00000417793.1:n.65-29G>A
ENST00000472581.1:n.396G>A
ENST00000475617.5:c.149G>A ENSP00000420090.1:p.Arg50Gln
ENST00000477310.1:c.1352-550G>A ENSP00000418996.1:n.1352-550G>A
NM_001710.5:c.149G>A , LRG_136t1:c.149G>A NP_001701.2:p.Arg50Gln
NM_001710.6:c.149G>A MANE Select NP_001701.2:p.Arg50Gln