Canonical Allele Identifier: CA363387989

Gene: CFB

Linked Data

• gnomAD v4: 6-31946409-A-G
• MyVariant Identifiers: chr6:g.31914186A>G (hg19) ; chr6:g.31946409A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946409A>G , CM000668.2:g.31946409A>G	GRCh38
NC_000006.11:g.31914186A>G , CM000668.1:g.31914186A>G	GRCh37
NC_000006.10:g.32022165A>G	NCBI36
NG_008191.1:g.5466A>G , LRG_136:g.5466A>G
NG_011730.1:g.23921A>G , LRG_26:g.23921A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.278A>G
ENST00000483004.2:c.101A>G	ENSP00000419887.2:p.Gln34Arg
ENST00000497841.6:c.101A>G	ENSP00000513847.1:p.Gln34Arg
ENST00000698628.1:c.101A>G	ENSP00000513848.1:p.Gln34Arg
ENST00000698629.1:n.278A>G
ENST00000698630.1:n.262A>G
ENST00000698631.1:n.257A>G
ENST00000698632.1:n.229A>G
ENST00000698633.1:n.199A>G
ENST00000698636.1:n.323A>G
ENST00000425368.7:c.101A>G MANE Select	ENSP00000416561.2:p.Gln34Arg
ENST00000425368.6:c.101A>G	ENSP00000416561.2:p.Gln34Arg
ENST00000452035.6:n.101A>G
ENST00000456570.5:c.1607A>G	ENSP00000410815.1:p.Gln536Arg
ENST00000460718.5:c.65-77A>G	ENSP00000417793.1:n.65-77A>G
ENST00000472581.1:n.348A>G
ENST00000475617.5:c.101A>G	ENSP00000420090.1:p.Gln34Arg
ENST00000477310.1:c.1352-598A>G	ENSP00000418996.1:n.1352-598A>G
NM_001710.5:c.101A>G , LRG_136t1:c.101A>G	NP_001701.2:p.Gln34Arg
NM_001710.6:c.101A>G MANE Select	NP_001701.2:p.Gln34Arg