Canonical Allele Identifier: CA363413742

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31919367A>G (hg19) ; chr6:g.31951590A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951590A>G , CM000668.2:g.31951590A>G	GRCh38
NC_000006.11:g.31919367A>G , CM000668.1:g.31919367A>G	GRCh37
NC_000006.10:g.32027346A>G	NCBI36
NG_008191.1:g.10647A>G , LRG_136:g.10647A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2559A>G
ENST00000483004.2:c.1909A>G	ENSP00000419887.2:p.Ser637Gly
ENST00000698628.1:c.1894A>G	ENSP00000513848.1:p.Ser632Gly
ENST00000698629.1:n.2344A>G
ENST00000698630.1:n.2841A>G
ENST00000698631.1:n.2842A>G
ENST00000698632.1:n.3930A>G
ENST00000698633.1:n.3820A>G
ENST00000425368.7:c.2125A>G MANE Select	ENSP00000416561.2:p.Ser709Gly
ENST00000425368.6:c.2125A>G	ENSP00000416561.2:p.Ser709Gly
ENST00000456570.5:c.3631A>G	ENSP00000410815.1:p.Ser1211Gly
ENST00000477310.1:c.3178A>G	ENSP00000418996.1:p.Ser1060Gly
ENST00000482312.1:n.540A>G
ENST00000483004.1:c.747A>G
ENST00000498317.1:c.95A>G
NM_001710.5:c.2125A>G , LRG_136t1:c.2125A>G	NP_001701.2:p.Ser709Gly
NM_001710.6:c.2125A>G MANE Select	NP_001701.2:p.Ser709Gly