Canonical Allele Identifier: CA363413693

Gene: CFB

Linked Data

• dbSNP Id: rs1337999128
• gnomAD v2: 6-31919364-A-G
• gnomAD v4: 6-31951587-A-G
• MyVariant Identifiers: chr6:g.31919364A>G (hg19) ; chr6:g.31951587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951587A>G , CM000668.2:g.31951587A>G	GRCh38
NC_000006.11:g.31919364A>G , CM000668.1:g.31919364A>G	GRCh37
NC_000006.10:g.32027343A>G	NCBI36
NG_008191.1:g.10644A>G , LRG_136:g.10644A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2556A>G
ENST00000483004.2:c.1906A>G	ENSP00000419887.2:p.Arg636Gly
ENST00000698628.1:c.1891A>G	ENSP00000513848.1:p.Arg631Gly
ENST00000698629.1:n.2341A>G
ENST00000698630.1:n.2838A>G
ENST00000698631.1:n.2839A>G
ENST00000698632.1:n.3927A>G
ENST00000698633.1:n.3817A>G
ENST00000425368.7:c.2122A>G MANE Select	ENSP00000416561.2:p.Arg708Gly
ENST00000425368.6:c.2122A>G	ENSP00000416561.2:p.Arg708Gly
ENST00000456570.5:c.3628A>G	ENSP00000410815.1:p.Arg1210Gly
ENST00000477310.1:c.3175A>G	ENSP00000418996.1:p.Arg1059Gly
ENST00000482312.1:n.537A>G
ENST00000483004.1:c.744A>G
ENST00000498317.1:c.92A>G
NM_001710.5:c.2122A>G , LRG_136t1:c.2122A>G	NP_001701.2:p.Arg708Gly
NM_001710.6:c.2122A>G MANE Select	NP_001701.2:p.Arg708Gly