Canonical Allele Identifier: CA1619378626

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950769T= , CM000668.2:g.31950769T=	GRCh38
NC_000006.11:g.31918546T= , CM000668.1:g.31918546T=	GRCh37
NC_000006.10:g.32026525T=	NCBI36
NG_008191.1:g.9826T= , LRG_136:g.9826T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2167T=
ENST00000483004.2:c.1559T=	ENSP00000419887.2:p.Ile520=
ENST00000698628.1:c.1624+366T=	ENSP00000513848.1:n.1624+366T=
ENST00000698629.1:n.1952T=
ENST00000698630.1:n.2491T=
ENST00000698631.1:n.2492T=
ENST00000698632.1:n.3286T=
ENST00000698633.1:n.3176T=
ENST00000698636.1:n.1997T=
ENST00000425368.7:c.1775T= MANE Select	ENSP00000416561.2:p.Ile592=
ENST00000425368.6:c.1775T=	ENSP00000416561.2:p.Ile592=
ENST00000456570.5:c.3281T=	ENSP00000410815.1:p.Ile1094=
ENST00000467360.1:n.901T=
ENST00000477310.1:c.2828T=	ENSP00000418996.1:p.Ile943=
ENST00000483004.1:c.397T=
NM_001710.5:c.1775T= , LRG_136t1:c.1775T=	NP_001701.2:p.Ile592=
NM_001710.6:c.1775T= MANE Select	NP_001701.2:p.Ile592=