Canonical Allele Identifier: CA363408583

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918402A>C (hg19) ; chr6:g.31950625A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950625A>C , CM000668.2:g.31950625A>C	GRCh38
NC_000006.11:g.31918402A>C , CM000668.1:g.31918402A>C	GRCh37
NC_000006.10:g.32026381A>C	NCBI36
NG_008191.1:g.9682A>C , LRG_136:g.9682A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2023A>C
ENST00000483004.2:c.1415A>C	ENSP00000419887.2:p.Glu472Ala
ENST00000698628.1:c.1624+222A>C	ENSP00000513848.1:n.1624+222A>C
ENST00000698629.1:n.1808A>C
ENST00000698630.1:n.2347A>C
ENST00000698631.1:n.2348A>C
ENST00000698632.1:n.3142A>C
ENST00000698633.1:n.3032A>C
ENST00000698636.1:n.1853A>C
ENST00000425368.7:c.1631A>C MANE Select	ENSP00000416561.2:p.Glu544Ala
ENST00000425368.6:c.1631A>C	ENSP00000416561.2:p.Glu544Ala
ENST00000452035.6:n.1846A>C
ENST00000456570.5:c.3137A>C	ENSP00000410815.1:p.Glu1046Ala
ENST00000467360.1:n.757A>C
ENST00000477310.1:c.2684A>C	ENSP00000418996.1:p.Glu895Ala
ENST00000483004.1:c.253A>C
NM_001710.5:c.1631A>C , LRG_136t1:c.1631A>C	NP_001701.2:p.Glu544Ala
NM_001710.6:c.1631A>C MANE Select	NP_001701.2:p.Glu544Ala