Canonical Allele Identifier: CA2580074287

Gene: CFB

Linked Data

• ClinVar Variation Id: 2133063
• ClinVar RCV Id: RCV003040748

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946304C>G , CM000668.2:g.31946304C>G	GRCh38
NC_000006.11:g.31914081C>G , CM000668.1:g.31914081C>G	GRCh37
NC_000006.10:g.32022060C>G	NCBI36
NG_008191.1:g.5361C>G , LRG_136:g.5361C>G
NG_011730.1:g.23816C>G , LRG_26:g.23816C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.241+19C>G
ENST00000483004.2:c.64+19C>G	ENSP00000419887.2:n.64+19C>G
ENST00000497841.6:c.64+19C>G	ENSP00000513847.1:n.64+19C>G
ENST00000698628.1:c.64+19C>G	ENSP00000513848.1:n.64+19C>G
ENST00000698629.1:n.241+19C>G
ENST00000698630.1:n.225+19C>G
ENST00000698631.1:n.220+19C>G
ENST00000698632.1:n.192+19C>G
ENST00000698633.1:n.162+19C>G
ENST00000698636.1:n.286+19C>G
ENST00000425368.7:c.64+19C>G MANE Select	ENSP00000416561.2:n.64+19C>G
ENST00000425368.6:c.64+19C>G	ENSP00000416561.2:n.64+19C>G
ENST00000452035.6:n.64+19C>G
ENST00000456570.5:c.1571-69C>G	ENSP00000410815.1:n.1571-69C>G
ENST00000460718.5:c.64+19C>G	ENSP00000417793.1:n.64+19C>G
ENST00000472581.1:n.311+19C>G
ENST00000475617.5:c.64+19C>G	ENSP00000420090.1:n.64+19C>G
ENST00000477310.1:c.1352-703C>G	ENSP00000418996.1:n.1352-703C>G
NM_001710.5:c.64+19C>G , LRG_136t1:c.64+19C>G	NP_001701.2:n.64+19C>G
NM_001710.6:c.64+19C>G MANE Select	NP_001701.2:n.64+19C>G