Canonical Allele Identifier: CA2578573035

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950532A>G , CM000668.2:g.31950532A>G	GRCh38
NC_000006.11:g.31918309A>G , CM000668.1:g.31918309A>G	GRCh37
NC_000006.10:g.32026288A>G	NCBI36
NG_008191.1:g.9589A>G , LRG_136:g.9589A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1930A>G
ENST00000483004.2:c.1409-87A>G	ENSP00000419887.2:n.1409-87A>G
ENST00000698628.1:c.1624+129A>G	ENSP00000513848.1:n.1624+129A>G
ENST00000698629.1:n.1802-87A>G
ENST00000698630.1:n.2341-87A>G
ENST00000698631.1:n.2342-87A>G
ENST00000698632.1:n.3049A>G
ENST00000698633.1:n.2939A>G
ENST00000698636.1:n.1847-87A>G
ENST00000425368.7:c.1625-87A>G MANE Select	ENSP00000416561.2:n.1625-87A>G
ENST00000425368.6:c.1625-87A>G	ENSP00000416561.2:n.1625-87A>G
ENST00000452035.6:n.1753A>G
ENST00000456570.5:c.3131-87A>G	ENSP00000410815.1:n.3131-87A>G
ENST00000467360.1:n.664A>G
ENST00000477310.1:c.2678-87A>G	ENSP00000418996.1:n.2678-87A>G
ENST00000483004.1:c.247-87A>G
NM_001710.5:c.1625-87A>G , LRG_136t1:c.1625-87A>G	NP_001701.2:n.1625-87A>G
NM_001710.6:c.1625-87A>G MANE Select	NP_001701.2:n.1625-87A>G