Canonical Allele Identifier: CA363408963

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918468A>T (hg19) ; chr6:g.31950691A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950691A>T , CM000668.2:g.31950691A>T	GRCh38
NC_000006.11:g.31918468A>T , CM000668.1:g.31918468A>T	GRCh37
NC_000006.10:g.32026447A>T	NCBI36
NG_008191.1:g.9748A>T , LRG_136:g.9748A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2089A>T
ENST00000483004.2:c.1481A>T	ENSP00000419887.2:p.Glu494Val
ENST00000698628.1:c.1624+288A>T	ENSP00000513848.1:n.1624+288A>T
ENST00000698629.1:n.1874A>T
ENST00000698630.1:n.2413A>T
ENST00000698631.1:n.2414A>T
ENST00000698632.1:n.3208A>T
ENST00000698633.1:n.3098A>T
ENST00000698636.1:n.1919A>T
ENST00000425368.7:c.1697A>T MANE Select	ENSP00000416561.2:p.Glu566Val
ENST00000425368.6:c.1697A>T	ENSP00000416561.2:p.Glu566Val
ENST00000456570.5:c.3203A>T	ENSP00000410815.1:p.Glu1068Val
ENST00000467360.1:n.823A>T
ENST00000477310.1:c.2750A>T	ENSP00000418996.1:p.Glu917Val
ENST00000483004.1:c.319A>T
NM_001710.5:c.1697A>T , LRG_136t1:c.1697A>T	NP_001701.2:p.Glu566Val
NM_001710.6:c.1697A>T MANE Select	NP_001701.2:p.Glu566Val