Canonical Allele Identifier: CA1619374641

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946268T= , CM000668.2:g.31946268T=	GRCh38
NC_000006.11:g.31914045T= , CM000668.1:g.31914045T=	GRCh37
NC_000006.10:g.32022024T=	NCBI36
NG_008191.1:g.5325T= , LRG_136:g.5325T=
NG_011730.1:g.23780T= , LRG_26:g.23780T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.224T=
ENST00000483004.2:c.47T=	ENSP00000419887.2:p.Leu16=
ENST00000497841.6:c.47T=	ENSP00000513847.1:p.Leu16=
ENST00000698628.1:c.47T=	ENSP00000513848.1:p.Leu16=
ENST00000698629.1:n.224T=
ENST00000698630.1:n.208T=
ENST00000698631.1:n.203T=
ENST00000698632.1:n.175T=
ENST00000698633.1:n.145T=
ENST00000698636.1:n.269T=
ENST00000425368.7:c.47T= MANE Select	ENSP00000416561.2:p.Leu16=
ENST00000425368.6:c.47T=	ENSP00000416561.2:p.Leu16=
ENST00000452035.6:n.47T=
ENST00000456570.5:c.1571-105T=	ENSP00000410815.1:n.1571-105T=
ENST00000460718.5:c.47T=	ENSP00000417793.1:p.Leu16=
ENST00000472581.1:n.294T=
ENST00000475617.5:c.47T=	ENSP00000420090.1:p.Leu16=
ENST00000477310.1:c.1352-739T=	ENSP00000418996.1:n.1352-739T=
NM_001710.5:c.47T= , LRG_136t1:c.47T=	NP_001701.2:p.Leu16=
NM_001710.6:c.47T= MANE Select	NP_001701.2:p.Leu16=