Canonical Allele Identifier: CA363409741

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918663C>G (hg19) ; chr6:g.31950886C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950886C>G , CM000668.2:g.31950886C>G	GRCh38
NC_000006.11:g.31918663C>G , CM000668.1:g.31918663C>G	GRCh37
NC_000006.10:g.32026642C>G	NCBI36
NG_008191.1:g.9943C>G , LRG_136:g.9943C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2284C>G
ENST00000483004.2:c.1581C>G	ENSP00000419887.2:p.Cys527Trp
ENST00000698628.1:c.1625-258C>G	ENSP00000513848.1:n.1625-258C>G
ENST00000698629.1:n.2069C>G
ENST00000698630.1:n.2513C>G
ENST00000698631.1:n.2514C>G
ENST00000698632.1:n.3403C>G
ENST00000698633.1:n.3293C>G
ENST00000425368.7:c.1797C>G MANE Select	ENSP00000416561.2:p.Cys599Trp
ENST00000425368.6:c.1797C>G	ENSP00000416561.2:p.Cys599Trp
ENST00000456570.5:c.3303C>G	ENSP00000410815.1:p.Cys1101Trp
ENST00000467360.1:n.923C>G
ENST00000477310.1:c.2850C>G	ENSP00000418996.1:p.Cys950Trp
ENST00000482312.1:n.13C>G
ENST00000483004.1:c.419C>G
NM_001710.5:c.1797C>G , LRG_136t1:c.1797C>G	NP_001701.2:p.Cys599Trp
NM_001710.6:c.1797C>G MANE Select	NP_001701.2:p.Cys599Trp