Canonical Allele Identifier: CA363408991
Gene: CFB HGNC NCBI

Linked Data

dbSNP Id: rs1370179010
gnomAD v2: 6-31918474-G-A
gnomAD v3: 6-31950697-G-A
gnomAD v4: 6-31950697-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950697G>A , CM000668.2:g.31950697G>A GRCh38
NC_000006.11:g.31918474G>A , CM000668.1:g.31918474G>A GRCh37
NC_000006.10:g.32026453G>A NCBI36
NG_008191.1:g.9754G>A , LRG_136:g.9754G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2095G>A
ENST00000483004.2:c.1487G>A ENSP00000419887.2:p.Gly496Glu
ENST00000698628.1:c.1624+294G>A ENSP00000513848.1:n.1624+294G>A
ENST00000698629.1:n.1880G>A
ENST00000698630.1:n.2419G>A
ENST00000698631.1:n.2420G>A
ENST00000698632.1:n.3214G>A
ENST00000698633.1:n.3104G>A
ENST00000698636.1:n.1925G>A
ENST00000425368.7:c.1703G>A MANE Select ENSP00000416561.2:p.Gly568Glu
ENST00000425368.6:c.1703G>A ENSP00000416561.2:p.Gly568Glu
ENST00000456570.5:c.3209G>A ENSP00000410815.1:p.Gly1070Glu
ENST00000467360.1:n.829G>A
ENST00000477310.1:c.2756G>A ENSP00000418996.1:p.Gly919Glu
ENST00000483004.1:c.325G>A
NM_001710.5:c.1703G>A , LRG_136t1:c.1703G>A NP_001701.2:p.Gly568Glu
NM_001710.6:c.1703G>A MANE Select NP_001701.2:p.Gly568Glu