Canonical Allele Identifier: CA449812120

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918463A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950686A>G , CM000668.2:g.31950686A>G	GRCh38
NC_000006.11:g.31918463A>G , CM000668.1:g.31918463A>G	GRCh37
NC_000006.10:g.32026442A>G	NCBI36
NG_008191.1:g.9743A>G , LRG_136:g.9743A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2084A>G
ENST00000483004.2:c.1476A>G	ENSP00000419887.2:p.Lys492=
ENST00000698628.1:c.1624+283A>G	ENSP00000513848.1:n.1624+283A>G
ENST00000698629.1:n.1869A>G
ENST00000698630.1:n.2408A>G
ENST00000698631.1:n.2409A>G
ENST00000698632.1:n.3203A>G
ENST00000698633.1:n.3093A>G
ENST00000698636.1:n.1914A>G
ENST00000425368.7:c.1692A>G MANE Select	ENSP00000416561.2:p.Lys564=
ENST00000425368.6:c.1692A>G	ENSP00000416561.2:p.Lys564=
ENST00000456570.5:c.3198A>G	ENSP00000410815.1:p.Lys1066=
ENST00000467360.1:n.818A>G
ENST00000477310.1:c.2745A>G	ENSP00000418996.1:p.Lys915=
ENST00000483004.1:c.314A>G
NM_001710.5:c.1692A>G , LRG_136t1:c.1692A>G	NP_001701.2:p.Lys564=
NM_001710.6:c.1692A>G MANE Select	NP_001701.2:p.Lys564=