Canonical Allele Identifier: CA363409694

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918658C>A (hg19) ; chr6:g.31950881C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950881C>A , CM000668.2:g.31950881C>A	GRCh38
NC_000006.11:g.31918658C>A , CM000668.1:g.31918658C>A	GRCh37
NC_000006.10:g.32026637C>A	NCBI36
NG_008191.1:g.9938C>A , LRG_136:g.9938C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2279C>A
ENST00000483004.2:c.1576C>A	ENSP00000419887.2:p.Pro526Thr
ENST00000698628.1:c.1625-263C>A	ENSP00000513848.1:n.1625-263C>A
ENST00000698629.1:n.2064C>A
ENST00000698630.1:n.2508C>A
ENST00000698631.1:n.2509C>A
ENST00000698632.1:n.3398C>A
ENST00000698633.1:n.3288C>A
ENST00000425368.7:c.1792C>A MANE Select	ENSP00000416561.2:p.Pro598Thr
ENST00000425368.6:c.1792C>A	ENSP00000416561.2:p.Pro598Thr
ENST00000456570.5:c.3298C>A	ENSP00000410815.1:p.Pro1100Thr
ENST00000467360.1:n.918C>A
ENST00000477310.1:c.2845C>A	ENSP00000418996.1:p.Pro949Thr
ENST00000482312.1:n.8C>A
ENST00000483004.1:c.414C>A
NM_001710.5:c.1792C>A , LRG_136t1:c.1792C>A	NP_001701.2:p.Pro598Thr
NM_001710.6:c.1792C>A MANE Select	NP_001701.2:p.Pro598Thr