Canonical Allele Identifier: CA3728379

Gene: CFB

Linked Data

• dbSNP Id: rs773378642
• ExAC: 6:31918176 C / A
• gnomAD v2: 6-31918176-C-A
• gnomAD v4: 6-31950399-C-A
• MyVariant Identifiers: chr6:g.31918176C>A (hg19) ; chr6:g.31950399C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950399C>A , CM000668.2:g.31950399C>A	GRCh38
NC_000006.11:g.31918176C>A , CM000668.1:g.31918176C>A	GRCh37
NC_000006.10:g.32026155C>A	NCBI36
NG_008191.1:g.9456C>A , LRG_136:g.9456C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1797C>A
ENST00000483004.2:c.1409-220C>A	ENSP00000419887.2:n.1409-220C>A
ENST00000698628.1:c.1620C>A	ENSP00000513848.1:p.Ser540Arg
ENST00000698629.1:n.1797C>A
ENST00000698630.1:n.2336C>A
ENST00000698631.1:n.2337C>A
ENST00000698632.1:n.2916C>A
ENST00000698633.1:n.2806C>A
ENST00000698636.1:n.1842C>A
ENST00000425368.7:c.1620C>A MANE Select	ENSP00000416561.2:p.Ser540Arg
ENST00000425368.6:c.1620C>A	ENSP00000416561.2:p.Ser540Arg
ENST00000452035.6:n.1620C>A
ENST00000456570.5:c.3126C>A	ENSP00000410815.1:p.Ser1042Arg
ENST00000467360.1:n.531C>A
ENST00000477310.1:c.2673C>A	ENSP00000418996.1:p.Ser891Arg
ENST00000483004.1:c.247-220C>A
NM_001710.5:c.1620C>A , LRG_136t1:c.1620C>A	NP_001701.2:p.Ser540Arg
NM_001710.6:c.1620C>A MANE Select	NP_001701.2:p.Ser540Arg