Canonical Allele Identifier: CA363409672

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918654T>G (hg19) ; chr6:g.31950877T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950877T>G , CM000668.2:g.31950877T>G	GRCh38
NC_000006.11:g.31918654T>G , CM000668.1:g.31918654T>G	GRCh37
NC_000006.10:g.32026633T>G	NCBI36
NG_008191.1:g.9934T>G , LRG_136:g.9934T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2275T>G
ENST00000483004.2:c.1572T>G	ENSP00000419887.2:p.Cys524Trp
ENST00000698628.1:c.1625-267T>G	ENSP00000513848.1:n.1625-267T>G
ENST00000698629.1:n.2060T>G
ENST00000698630.1:n.2504T>G
ENST00000698631.1:n.2505T>G
ENST00000698632.1:n.3394T>G
ENST00000698633.1:n.3284T>G
ENST00000425368.7:c.1788T>G MANE Select	ENSP00000416561.2:p.Cys596Trp
ENST00000425368.6:c.1788T>G	ENSP00000416561.2:p.Cys596Trp
ENST00000456570.5:c.3294T>G	ENSP00000410815.1:p.Cys1098Trp
ENST00000467360.1:n.914T>G
ENST00000477310.1:c.2841T>G	ENSP00000418996.1:p.Cys947Trp
ENST00000482312.1:n.4T>G
ENST00000483004.1:c.410T>G
NM_001710.5:c.1788T>G , LRG_136t1:c.1788T>G	NP_001701.2:p.Cys596Trp
NM_001710.6:c.1788T>G MANE Select	NP_001701.2:p.Cys596Trp