Canonical Allele Identifier: CA1619379320

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951566G= , CM000668.2:g.31951566G=	GRCh38
NC_000006.11:g.31919343G= , CM000668.1:g.31919343G=	GRCh37
NC_000006.10:g.32027322G=	NCBI36
NG_008191.1:g.10623G= , LRG_136:g.10623G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2535G=
ENST00000483004.2:c.1885G=	ENSP00000419887.2:p.Gly629=
ENST00000698628.1:c.1870G=	ENSP00000513848.1:p.Gly624=
ENST00000698629.1:n.2320G=
ENST00000698630.1:n.2817G=
ENST00000698631.1:n.2818G=
ENST00000698632.1:n.3906G=
ENST00000698633.1:n.3796G=
ENST00000425368.7:c.2101G= MANE Select	ENSP00000416561.2:p.Gly701=
ENST00000425368.6:c.2101G=	ENSP00000416561.2:p.Gly701=
ENST00000456570.5:c.3607G=	ENSP00000410815.1:p.Gly1203=
ENST00000477310.1:c.3154G=	ENSP00000418996.1:p.Gly1052=
ENST00000482312.1:n.516G=
ENST00000483004.1:c.723G=
ENST00000498317.1:c.71G=
NM_001710.5:c.2101G= , LRG_136t1:c.2101G=	NP_001701.2:p.Gly701=
NM_001710.6:c.2101G= MANE Select	NP_001701.2:p.Gly701=