Canonical Allele Identifier: CA363409788

Gene: CFB

Linked Data

• dbSNP Id: rs1771720516
• MyVariant Identifiers: chr6:g.31918668A>C (hg19) ; chr6:g.31950891A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950891A>C , CM000668.2:g.31950891A>C	GRCh38
NC_000006.11:g.31918668A>C , CM000668.1:g.31918668A>C	GRCh37
NC_000006.10:g.32026647A>C	NCBI36
NG_008191.1:g.9948A>C , LRG_136:g.9948A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2289A>C
ENST00000483004.2:c.1586A>C	ENSP00000419887.2:p.Glu529Ala
ENST00000698628.1:c.1625-253A>C	ENSP00000513848.1:n.1625-253A>C
ENST00000698629.1:n.2074A>C
ENST00000698630.1:n.2518A>C
ENST00000698631.1:n.2519A>C
ENST00000698632.1:n.3408A>C
ENST00000698633.1:n.3298A>C
ENST00000425368.7:c.1802A>C MANE Select	ENSP00000416561.2:p.Glu601Ala
ENST00000425368.6:c.1802A>C	ENSP00000416561.2:p.Glu601Ala
ENST00000456570.5:c.3308A>C	ENSP00000410815.1:p.Glu1103Ala
ENST00000467360.1:n.928A>C
ENST00000477310.1:c.2855A>C	ENSP00000418996.1:p.Glu952Ala
ENST00000482312.1:n.18A>C
ENST00000483004.1:c.424A>C
NM_001710.5:c.1802A>C , LRG_136t1:c.1802A>C	NP_001701.2:p.Glu601Ala
NM_001710.6:c.1802A>C MANE Select	NP_001701.2:p.Glu601Ala