Canonical Allele Identifier: CA449687147

Gene: CFB

Linked Data

• dbSNP Id: rs1272255446
• gnomAD v2: 6-31918681-A-G
• gnomAD v4: 6-31950904-A-G
• MyVariant Identifiers: chr6:g.31918681A>G (hg19) ; chr6:g.31950904A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950904A>G , CM000668.2:g.31950904A>G	GRCh38
NC_000006.11:g.31918681A>G , CM000668.1:g.31918681A>G	GRCh37
NC_000006.10:g.32026660A>G	NCBI36
NG_008191.1:g.9961A>G , LRG_136:g.9961A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2302A>G
ENST00000483004.2:c.1599A>G	ENSP00000419887.2:p.Arg533=
ENST00000698628.1:c.1625-240A>G	ENSP00000513848.1:n.1625-240A>G
ENST00000698629.1:n.2087A>G
ENST00000698630.1:n.2531A>G
ENST00000698631.1:n.2532A>G
ENST00000698632.1:n.3421A>G
ENST00000698633.1:n.3311A>G
ENST00000425368.7:c.1815A>G MANE Select	ENSP00000416561.2:p.Arg605=
ENST00000425368.6:c.1815A>G	ENSP00000416561.2:p.Arg605=
ENST00000456570.5:c.3321A>G	ENSP00000410815.1:p.Arg1107=
ENST00000467360.1:n.941A>G
ENST00000477310.1:c.2868A>G	ENSP00000418996.1:p.Arg956=
ENST00000482312.1:n.31A>G
ENST00000483004.1:c.437A>G
NM_001710.5:c.1815A>G , LRG_136t1:c.1815A>G	NP_001701.2:p.Arg605=
NM_001710.6:c.1815A>G MANE Select	NP_001701.2:p.Arg605=