Canonical Allele Identifier: CA363410292

Gene: CFB

Linked Data

• dbSNP Id: rs1771723814
• gnomAD v4: 6-31950942-A-G
• MyVariant Identifiers: chr6:g.31918719A>G (hg19) ; chr6:g.31950942A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950942A>G , CM000668.2:g.31950942A>G	GRCh38
NC_000006.11:g.31918719A>G , CM000668.1:g.31918719A>G	GRCh37
NC_000006.10:g.32026698A>G	NCBI36
NG_008191.1:g.9999A>G , LRG_136:g.9999A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2340A>G
ENST00000483004.2:c.1637A>G	ENSP00000419887.2:p.Gln546Arg
ENST00000698628.1:c.1625-202A>G	ENSP00000513848.1:n.1625-202A>G
ENST00000698629.1:n.2125A>G
ENST00000698630.1:n.2569A>G
ENST00000698631.1:n.2570A>G
ENST00000698632.1:n.3459A>G
ENST00000698633.1:n.3349A>G
ENST00000425368.7:c.1853A>G MANE Select	ENSP00000416561.2:p.Gln618Arg
ENST00000425368.6:c.1853A>G	ENSP00000416561.2:p.Gln618Arg
ENST00000456570.5:c.3359A>G	ENSP00000410815.1:p.Gln1120Arg
ENST00000467360.1:n.979A>G
ENST00000477310.1:c.2906A>G	ENSP00000418996.1:p.Gln969Arg
ENST00000482312.1:n.69A>G
ENST00000483004.1:c.475A>G
NM_001710.5:c.1853A>G , LRG_136t1:c.1853A>G	NP_001701.2:p.Gln618Arg
NM_001710.6:c.1853A>G MANE Select	NP_001701.2:p.Gln618Arg