Canonical Allele Identifier: CA2578572601

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946617A>T , CM000668.2:g.31946617A>T	GRCh38
NC_000006.11:g.31914394A>T , CM000668.1:g.31914394A>T	GRCh37
NC_000006.10:g.32022373A>T	NCBI36
NG_008191.1:g.5674A>T , LRG_136:g.5674A>T
NG_011730.1:g.24129A>T , LRG_26:g.24129A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.475+11A>T
ENST00000483004.2:c.298+11A>T	ENSP00000419887.2:n.298+11A>T
ENST00000497841.6:c.298+11A>T	ENSP00000513847.1:n.298+11A>T
ENST00000698628.1:c.298+11A>T	ENSP00000513848.1:n.298+11A>T
ENST00000698629.1:n.475+11A>T
ENST00000698630.1:n.470A>T
ENST00000698631.1:n.465A>T
ENST00000698632.1:n.437A>T
ENST00000698633.1:n.407A>T
ENST00000698636.1:n.520+11A>T
ENST00000425368.7:c.298+11A>T MANE Select	ENSP00000416561.2:n.298+11A>T
ENST00000425368.6:c.298+11A>T	ENSP00000416561.2:n.298+11A>T
ENST00000452035.6:n.298+11A>T
ENST00000456570.5:c.1804+11A>T	ENSP00000410815.1:n.1804+11A>T
ENST00000460718.5:c.185+11A>T	ENSP00000417793.1:n.185+11A>T
ENST00000472581.1:n.556A>T
ENST00000475617.5:c.298+11A>T	ENSP00000420090.1:n.298+11A>T
ENST00000477310.1:c.1352-390A>T	ENSP00000418996.1:n.1352-390A>T
NM_001710.5:c.298+11A>T , LRG_136t1:c.298+11A>T	NP_001701.2:n.298+11A>T
NM_001710.6:c.298+11A>T MANE Select	NP_001701.2:n.298+11A>T