Canonical Allele Identifier: CA363409772

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918667G>C (hg19) ; chr6:g.31950890G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950890G>C , CM000668.2:g.31950890G>C	GRCh38
NC_000006.11:g.31918667G>C , CM000668.1:g.31918667G>C	GRCh37
NC_000006.10:g.32026646G>C	NCBI36
NG_008191.1:g.9947G>C , LRG_136:g.9947G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2288G>C
ENST00000483004.2:c.1585G>C	ENSP00000419887.2:p.Glu529Gln
ENST00000698628.1:c.1625-254G>C	ENSP00000513848.1:n.1625-254G>C
ENST00000698629.1:n.2073G>C
ENST00000698630.1:n.2517G>C
ENST00000698631.1:n.2518G>C
ENST00000698632.1:n.3407G>C
ENST00000698633.1:n.3297G>C
ENST00000425368.7:c.1801G>C MANE Select	ENSP00000416561.2:p.Glu601Gln
ENST00000425368.6:c.1801G>C	ENSP00000416561.2:p.Glu601Gln
ENST00000456570.5:c.3307G>C	ENSP00000410815.1:p.Glu1103Gln
ENST00000467360.1:n.927G>C
ENST00000477310.1:c.2854G>C	ENSP00000418996.1:p.Glu952Gln
ENST00000482312.1:n.17G>C
ENST00000483004.1:c.423G>C
NM_001710.5:c.1801G>C , LRG_136t1:c.1801G>C	NP_001701.2:p.Glu601Gln
NM_001710.6:c.1801G>C MANE Select	NP_001701.2:p.Glu601Gln