Canonical Allele Identifier: CA449812187

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918527C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950750C>T , CM000668.2:g.31950750C>T	GRCh38
NC_000006.11:g.31918527C>T , CM000668.1:g.31918527C>T	GRCh37
NC_000006.10:g.32026506C>T	NCBI36
NG_008191.1:g.9807C>T , LRG_136:g.9807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2148C>T
ENST00000483004.2:c.1540C>T	ENSP00000419887.2:p.Leu514=
ENST00000698628.1:c.1624+347C>T	ENSP00000513848.1:n.1624+347C>T
ENST00000698629.1:n.1933C>T
ENST00000698630.1:n.2472C>T
ENST00000698631.1:n.2473C>T
ENST00000698632.1:n.3267C>T
ENST00000698633.1:n.3157C>T
ENST00000698636.1:n.1978C>T
ENST00000425368.7:c.1756C>T MANE Select	ENSP00000416561.2:p.Leu586=
ENST00000425368.6:c.1756C>T	ENSP00000416561.2:p.Leu586=
ENST00000456570.5:c.3262C>T	ENSP00000410815.1:p.Leu1088=
ENST00000467360.1:n.882C>T
ENST00000477310.1:c.2809C>T	ENSP00000418996.1:p.Leu937=
ENST00000483004.1:c.378C>T
NM_001710.5:c.1756C>T , LRG_136t1:c.1756C>T	NP_001701.2:p.Leu586=
NM_001710.6:c.1756C>T MANE Select	NP_001701.2:p.Leu586=