Canonical Allele Identifier: CA126178
Gene: CFB HGNC NCBI

Linked Data

ClinVar Variation Id: 16075
dbSNP Id: rs641153
gnomAD v2: 6-31914180-G-A
gnomAD v3: 6-31946403-G-A
gnomAD v4: 6-31946403-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946403G>A , CM000668.2:g.31946403G>A GRCh38
NC_000006.11:g.31914180G>A , CM000668.1:g.31914180G>A GRCh37
NC_000006.10:g.32022159G>A NCBI36
NG_008191.1:g.5460G>A , LRG_136:g.5460G>A
NG_011730.1:g.23915G>A , LRG_26:g.23915G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.272G>A
ENST00000483004.2:c.95G>A ENSP00000419887.2:p.Arg32Gln
ENST00000497841.6:c.95G>A ENSP00000513847.1:p.Arg32Gln
ENST00000698628.1:c.95G>A ENSP00000513848.1:p.Arg32Gln
ENST00000698629.1:n.272G>A
ENST00000698630.1:n.256G>A
ENST00000698631.1:n.251G>A
ENST00000698632.1:n.223G>A
ENST00000698633.1:n.193G>A
ENST00000698636.1:n.317G>A
ENST00000425368.7:c.95G>A MANE Select ENSP00000416561.2:p.Arg32Gln
ENST00000425368.6:c.95G>A ENSP00000416561.2:p.Arg32Gln
ENST00000452035.6:n.95G>A
ENST00000456570.5:c.1601G>A ENSP00000410815.1:p.Arg534Gln
ENST00000460718.5:c.65-83G>A ENSP00000417793.1:n.65-83G>A
ENST00000472581.1:n.342G>A
ENST00000475617.5:c.95G>A ENSP00000420090.1:p.Arg32Gln
ENST00000477310.1:c.1352-604G>A ENSP00000418996.1:n.1352-604G>A
NM_001710.5:c.95G>A , LRG_136t1:c.95G>A NP_001701.2:p.Arg32Gln
NM_001710.6:c.95G>A MANE Select NP_001701.2:p.Arg32Gln