Canonical Allele Identifier: CA363409243

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918519A>G (hg19) ; chr6:g.31950742A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950742A>G , CM000668.2:g.31950742A>G	GRCh38
NC_000006.11:g.31918519A>G , CM000668.1:g.31918519A>G	GRCh37
NC_000006.10:g.32026498A>G	NCBI36
NG_008191.1:g.9799A>G , LRG_136:g.9799A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2140A>G
ENST00000483004.2:c.1532A>G	ENSP00000419887.2:p.Lys511Arg
ENST00000698628.1:c.1624+339A>G	ENSP00000513848.1:n.1624+339A>G
ENST00000698629.1:n.1925A>G
ENST00000698630.1:n.2464A>G
ENST00000698631.1:n.2465A>G
ENST00000698632.1:n.3259A>G
ENST00000698633.1:n.3149A>G
ENST00000698636.1:n.1970A>G
ENST00000425368.7:c.1748A>G MANE Select	ENSP00000416561.2:p.Lys583Arg
ENST00000425368.6:c.1748A>G	ENSP00000416561.2:p.Lys583Arg
ENST00000456570.5:c.3254A>G	ENSP00000410815.1:p.Lys1085Arg
ENST00000467360.1:n.874A>G
ENST00000477310.1:c.2801A>G	ENSP00000418996.1:p.Lys934Arg
ENST00000483004.1:c.370A>G
NM_001710.5:c.1748A>G , LRG_136t1:c.1748A>G	NP_001701.2:p.Lys583Arg
NM_001710.6:c.1748A>G MANE Select	NP_001701.2:p.Lys583Arg