Canonical Allele Identifier: CA2678074065

Gene: CFB

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950691_31950693del , CM000668.2:g.31950691_31950693del	GRCh38
NC_000006.11:g.31918468_31918470del , CM000668.1:g.31918468_31918470del	GRCh37
NC_000006.10:g.32026447_32026449del	NCBI36
NG_008191.1:g.9748_9750del , LRG_136:g.9748_9750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2089_2091del
ENST00000483004.2:c.1481_1483del	ENSP00000419887.2:p.Glu494del
ENST00000698628.1:c.1624+288_1624+290del	ENSP00000513848.1:n.1624+288_1624+290del
ENST00000698629.1:n.1874_1876del
ENST00000698630.1:n.2413_2415del
ENST00000698631.1:n.2414_2416del
ENST00000698632.1:n.3208_3210del
ENST00000698633.1:n.3098_3100del
ENST00000698636.1:n.1919_1921del
ENST00000425368.7:c.1697_1699del MANE Select	ENSP00000416561.2:p.Glu566del
ENST00000425368.6:c.1697_1699del	ENSP00000416561.2:p.Glu566del
ENST00000456570.5:c.3203_3205del	ENSP00000410815.1:p.Glu1068del
ENST00000467360.1:n.823_825del
ENST00000477310.1:c.2750_2752del	ENSP00000418996.1:p.Glu917del
ENST00000483004.1:c.319_321del
NM_001710.5:c.1697_1699del , LRG_136t1:c.1697_1699del	NP_001701.2:p.Glu566del
NM_001710.6:c.1697_1699del MANE Select	NP_001701.2:p.Glu566del