Canonical Allele Identifier: CA363410073

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918703A>G (hg19) ; chr6:g.31950926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950926A>G , CM000668.2:g.31950926A>G	GRCh38
NC_000006.11:g.31918703A>G , CM000668.1:g.31918703A>G	GRCh37
NC_000006.10:g.32026682A>G	NCBI36
NG_008191.1:g.9983A>G , LRG_136:g.9983A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2324A>G
ENST00000483004.2:c.1621A>G	ENSP00000419887.2:p.Thr541Ala
ENST00000698628.1:c.1625-218A>G	ENSP00000513848.1:n.1625-218A>G
ENST00000698629.1:n.2109A>G
ENST00000698630.1:n.2553A>G
ENST00000698631.1:n.2554A>G
ENST00000698632.1:n.3443A>G
ENST00000698633.1:n.3333A>G
ENST00000425368.7:c.1837A>G MANE Select	ENSP00000416561.2:p.Thr613Ala
ENST00000425368.6:c.1837A>G	ENSP00000416561.2:p.Thr613Ala
ENST00000456570.5:c.3343A>G	ENSP00000410815.1:p.Thr1115Ala
ENST00000467360.1:n.963A>G
ENST00000477310.1:c.2890A>G	ENSP00000418996.1:p.Thr964Ala
ENST00000482312.1:n.53A>G
ENST00000483004.1:c.459A>G
NM_001710.5:c.1837A>G , LRG_136t1:c.1837A>G	NP_001701.2:p.Thr613Ala
NM_001710.6:c.1837A>G MANE Select	NP_001701.2:p.Thr613Ala