Canonical Allele Identifier: CA363408877

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918455A>G (hg19) ; chr6:g.31950678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950678A>G , CM000668.2:g.31950678A>G	GRCh38
NC_000006.11:g.31918455A>G , CM000668.1:g.31918455A>G	GRCh37
NC_000006.10:g.32026434A>G	NCBI36
NG_008191.1:g.9735A>G , LRG_136:g.9735A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2076A>G
ENST00000483004.2:c.1468A>G	ENSP00000419887.2:p.Asn490Asp
ENST00000698628.1:c.1624+275A>G	ENSP00000513848.1:n.1624+275A>G
ENST00000698629.1:n.1861A>G
ENST00000698630.1:n.2400A>G
ENST00000698631.1:n.2401A>G
ENST00000698632.1:n.3195A>G
ENST00000698633.1:n.3085A>G
ENST00000698636.1:n.1906A>G
ENST00000425368.7:c.1684A>G MANE Select	ENSP00000416561.2:p.Asn562Asp
ENST00000425368.6:c.1684A>G	ENSP00000416561.2:p.Asn562Asp
ENST00000456570.5:c.3190A>G	ENSP00000410815.1:p.Asn1064Asp
ENST00000467360.1:n.810A>G
ENST00000477310.1:c.2737A>G	ENSP00000418996.1:p.Asn913Asp
ENST00000483004.1:c.306A>G
NM_001710.5:c.1684A>G , LRG_136t1:c.1684A>G	NP_001701.2:p.Asn562Asp
NM_001710.6:c.1684A>G MANE Select	NP_001701.2:p.Asn562Asp