Canonical Allele Identifier: CA363410159

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918710G>A (hg19) ; chr6:g.31950933G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950933G>A , CM000668.2:g.31950933G>A	GRCh38
NC_000006.11:g.31918710G>A , CM000668.1:g.31918710G>A	GRCh37
NC_000006.10:g.32026689G>A	NCBI36
NG_008191.1:g.9990G>A , LRG_136:g.9990G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2331G>A
ENST00000483004.2:c.1628G>A	ENSP00000419887.2:p.Cys543Tyr
ENST00000698628.1:c.1625-211G>A	ENSP00000513848.1:n.1625-211G>A
ENST00000698629.1:n.2116G>A
ENST00000698630.1:n.2560G>A
ENST00000698631.1:n.2561G>A
ENST00000698632.1:n.3450G>A
ENST00000698633.1:n.3340G>A
ENST00000425368.7:c.1844G>A MANE Select	ENSP00000416561.2:p.Cys615Tyr
ENST00000425368.6:c.1844G>A	ENSP00000416561.2:p.Cys615Tyr
ENST00000456570.5:c.3350G>A	ENSP00000410815.1:p.Cys1117Tyr
ENST00000467360.1:n.970G>A
ENST00000477310.1:c.2897G>A	ENSP00000418996.1:p.Cys966Tyr
ENST00000482312.1:n.60G>A
ENST00000483004.1:c.466G>A
NM_001710.5:c.1844G>A , LRG_136t1:c.1844G>A	NP_001701.2:p.Cys615Tyr
NM_001710.6:c.1844G>A MANE Select	NP_001701.2:p.Cys615Tyr