Canonical Allele Identifier: CA449812203

Gene: CFB

Linked Data

• gnomAD v4: 6-31950764-G-A
• MyVariant Identifiers: chr6:g.31918541G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950764G>A , CM000668.2:g.31950764G>A	GRCh38
NC_000006.11:g.31918541G>A , CM000668.1:g.31918541G>A	GRCh37
NC_000006.10:g.32026520G>A	NCBI36
NG_008191.1:g.9821G>A , LRG_136:g.9821G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2162G>A
ENST00000483004.2:c.1554G>A	ENSP00000419887.2:p.Gln518=
ENST00000698628.1:c.1624+361G>A	ENSP00000513848.1:n.1624+361G>A
ENST00000698629.1:n.1947G>A
ENST00000698630.1:n.2486G>A
ENST00000698631.1:n.2487G>A
ENST00000698632.1:n.3281G>A
ENST00000698633.1:n.3171G>A
ENST00000698636.1:n.1992G>A
ENST00000425368.7:c.1770G>A MANE Select	ENSP00000416561.2:p.Gln590=
ENST00000425368.6:c.1770G>A	ENSP00000416561.2:p.Gln590=
ENST00000456570.5:c.3276G>A	ENSP00000410815.1:p.Gln1092=
ENST00000467360.1:n.896G>A
ENST00000477310.1:c.2823G>A	ENSP00000418996.1:p.Gln941=
ENST00000483004.1:c.392G>A
NM_001710.5:c.1770G>A , LRG_136t1:c.1770G>A	NP_001701.2:p.Gln590=
NM_001710.6:c.1770G>A MANE Select	NP_001701.2:p.Gln590=