Canonical Allele Identifier: CA363409262

Gene: CFB

Linked Data

• dbSNP Id: rs1404836845
• gnomAD v3: 6-31950745-A-G
• gnomAD v4: 6-31950745-A-G
• MyVariant Identifiers: chr6:g.31918522A>G (hg19) ; chr6:g.31950745A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950745A>G , CM000668.2:g.31950745A>G	GRCh38
NC_000006.11:g.31918522A>G , CM000668.1:g.31918522A>G	GRCh37
NC_000006.10:g.32026501A>G	NCBI36
NG_008191.1:g.9802A>G , LRG_136:g.9802A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2143A>G
ENST00000483004.2:c.1535A>G	ENSP00000419887.2:p.Asn512Ser
ENST00000698628.1:c.1624+342A>G	ENSP00000513848.1:n.1624+342A>G
ENST00000698629.1:n.1928A>G
ENST00000698630.1:n.2467A>G
ENST00000698631.1:n.2468A>G
ENST00000698632.1:n.3262A>G
ENST00000698633.1:n.3152A>G
ENST00000698636.1:n.1973A>G
ENST00000425368.7:c.1751A>G MANE Select	ENSP00000416561.2:p.Asn584Ser
ENST00000425368.6:c.1751A>G	ENSP00000416561.2:p.Asn584Ser
ENST00000456570.5:c.3257A>G	ENSP00000410815.1:p.Asn1086Ser
ENST00000467360.1:n.877A>G
ENST00000477310.1:c.2804A>G	ENSP00000418996.1:p.Asn935Ser
ENST00000483004.1:c.373A>G
NM_001710.5:c.1751A>G , LRG_136t1:c.1751A>G	NP_001701.2:p.Asn584Ser
NM_001710.6:c.1751A>G MANE Select	NP_001701.2:p.Asn584Ser