Canonical Allele Identifier: CA363408983

Gene: CFB

Linked Data

• dbSNP Id: rs1771706701
• gnomAD v4: 6-31950696-G-A
• MyVariant Identifiers: chr6:g.31918473G>A (hg19) ; chr6:g.31950696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950696G>A , CM000668.2:g.31950696G>A	GRCh38
NC_000006.11:g.31918473G>A , CM000668.1:g.31918473G>A	GRCh37
NC_000006.10:g.32026452G>A	NCBI36
NG_008191.1:g.9753G>A , LRG_136:g.9753G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2094G>A
ENST00000483004.2:c.1486G>A	ENSP00000419887.2:p.Gly496Arg
ENST00000698628.1:c.1624+293G>A	ENSP00000513848.1:n.1624+293G>A
ENST00000698629.1:n.1879G>A
ENST00000698630.1:n.2418G>A
ENST00000698631.1:n.2419G>A
ENST00000698632.1:n.3213G>A
ENST00000698633.1:n.3103G>A
ENST00000698636.1:n.1924G>A
ENST00000425368.7:c.1702G>A MANE Select	ENSP00000416561.2:p.Gly568Arg
ENST00000425368.6:c.1702G>A	ENSP00000416561.2:p.Gly568Arg
ENST00000456570.5:c.3208G>A	ENSP00000410815.1:p.Gly1070Arg
ENST00000467360.1:n.828G>A
ENST00000477310.1:c.2755G>A	ENSP00000418996.1:p.Gly919Arg
ENST00000483004.1:c.324G>A
NM_001710.5:c.1702G>A , LRG_136t1:c.1702G>A	NP_001701.2:p.Gly568Arg
NM_001710.6:c.1702G>A MANE Select	NP_001701.2:p.Gly568Arg