Canonical Allele Identifier: CA449812192

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918529G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950752G>T , CM000668.2:g.31950752G>T	GRCh38
NC_000006.11:g.31918529G>T , CM000668.1:g.31918529G>T	GRCh37
NC_000006.10:g.32026508G>T	NCBI36
NG_008191.1:g.9809G>T , LRG_136:g.9809G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2150G>T
ENST00000483004.2:c.1542G>T	ENSP00000419887.2:p.Leu514=
ENST00000698628.1:c.1624+349G>T	ENSP00000513848.1:n.1624+349G>T
ENST00000698629.1:n.1935G>T
ENST00000698630.1:n.2474G>T
ENST00000698631.1:n.2475G>T
ENST00000698632.1:n.3269G>T
ENST00000698633.1:n.3159G>T
ENST00000698636.1:n.1980G>T
ENST00000425368.7:c.1758G>T MANE Select	ENSP00000416561.2:p.Leu586=
ENST00000425368.6:c.1758G>T	ENSP00000416561.2:p.Leu586=
ENST00000456570.5:c.3264G>T	ENSP00000410815.1:p.Leu1088=
ENST00000467360.1:n.884G>T
ENST00000477310.1:c.2811G>T	ENSP00000418996.1:p.Leu937=
ENST00000483004.1:c.380G>T
NM_001710.5:c.1758G>T , LRG_136t1:c.1758G>T	NP_001701.2:p.Leu586=
NM_001710.6:c.1758G>T MANE Select	NP_001701.2:p.Leu586=