Canonical Allele Identifier: CA363389909

Gene: CFB

Linked Data

• dbSNP Id: rs780912393
• MyVariant Identifiers: chr6:g.31914372C>A (hg19) ; chr6:g.31946595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946595C>A , CM000668.2:g.31946595C>A	GRCh38
NC_000006.11:g.31914372C>A , CM000668.1:g.31914372C>A	GRCh37
NC_000006.10:g.32022351C>A	NCBI36
NG_008191.1:g.5652C>A , LRG_136:g.5652C>A
NG_011730.1:g.24107C>A , LRG_26:g.24107C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.464C>A
ENST00000483004.2:c.287C>A	ENSP00000419887.2:p.Ala96Glu
ENST00000497841.6:c.287C>A	ENSP00000513847.1:p.Ala96Glu
ENST00000698628.1:c.287C>A	ENSP00000513848.1:p.Ala96Glu
ENST00000698629.1:n.464C>A
ENST00000698630.1:n.448C>A
ENST00000698631.1:n.443C>A
ENST00000698632.1:n.415C>A
ENST00000698633.1:n.385C>A
ENST00000698636.1:n.509C>A
ENST00000425368.7:c.287C>A MANE Select	ENSP00000416561.2:p.Ala96Glu
ENST00000425368.6:c.287C>A	ENSP00000416561.2:p.Ala96Glu
ENST00000452035.6:n.287C>A
ENST00000456570.5:c.1793C>A	ENSP00000410815.1:p.Ala598Glu
ENST00000460718.5:c.174C>A	ENSP00000417793.1:p.Gly58=
ENST00000472581.1:n.534C>A
ENST00000475617.5:c.287C>A	ENSP00000420090.1:p.Ala96Glu
ENST00000477310.1:c.1352-412C>A	ENSP00000418996.1:n.1352-412C>A
NM_001710.5:c.287C>A , LRG_136t1:c.287C>A	NP_001701.2:p.Ala96Glu
NM_001710.6:c.287C>A MANE Select	NP_001701.2:p.Ala96Glu