Canonical Allele Identifier: CA3728434
Gene: CFB HGNC NCBI

Linked Data

ClinVar Variation Id: 225314
dbSNP Id: rs45484591
gnomAD v2: 6-31918468-A-C
gnomAD v3: 6-31950691-A-C
gnomAD v4: 6-31950691-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950691A>C , CM000668.2:g.31950691A>C GRCh38
NC_000006.11:g.31918468A>C , CM000668.1:g.31918468A>C GRCh37
NC_000006.10:g.32026447A>C NCBI36
NG_008191.1:g.9748A>C , LRG_136:g.9748A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2089A>C
ENST00000483004.2:c.1481A>C ENSP00000419887.2:p.Glu494Ala
ENST00000698628.1:c.1624+288A>C ENSP00000513848.1:n.1624+288A>C
ENST00000698629.1:n.1874A>C
ENST00000698630.1:n.2413A>C
ENST00000698631.1:n.2414A>C
ENST00000698632.1:n.3208A>C
ENST00000698633.1:n.3098A>C
ENST00000698636.1:n.1919A>C
ENST00000425368.7:c.1697A>C MANE Select ENSP00000416561.2:p.Glu566Ala
ENST00000425368.6:c.1697A>C ENSP00000416561.2:p.Glu566Ala
ENST00000456570.5:c.3203A>C ENSP00000410815.1:p.Glu1068Ala
ENST00000467360.1:n.823A>C
ENST00000477310.1:c.2750A>C ENSP00000418996.1:p.Glu917Ala
ENST00000483004.1:c.319A>C
NM_001710.5:c.1697A>C , LRG_136t1:c.1697A>C NP_001701.2:p.Glu566Ala
NM_001710.6:c.1697A>C MANE Select NP_001701.2:p.Glu566Ala