Canonical Allele Identifier: CA449686970

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918651T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950874T>A , CM000668.2:g.31950874T>A	GRCh38
NC_000006.11:g.31918651T>A , CM000668.1:g.31918651T>A	GRCh37
NC_000006.10:g.32026630T>A	NCBI36
NG_008191.1:g.9931T>A , LRG_136:g.9931T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2272T>A
ENST00000483004.2:c.1569T>A	ENSP00000419887.2:p.Ile523=
ENST00000698628.1:c.1625-270T>A	ENSP00000513848.1:n.1625-270T>A
ENST00000698629.1:n.2057T>A
ENST00000698630.1:n.2501T>A
ENST00000698631.1:n.2502T>A
ENST00000698632.1:n.3391T>A
ENST00000698633.1:n.3281T>A
ENST00000425368.7:c.1785T>A MANE Select	ENSP00000416561.2:p.Ile595=
ENST00000425368.6:c.1785T>A	ENSP00000416561.2:p.Ile595=
ENST00000456570.5:c.3291T>A	ENSP00000410815.1:p.Ile1097=
ENST00000467360.1:n.911T>A
ENST00000477310.1:c.2838T>A	ENSP00000418996.1:p.Ile946=
ENST00000482312.1:n.1T>A
ENST00000483004.1:c.407T>A
NM_001710.5:c.1785T>A , LRG_136t1:c.1785T>A	NP_001701.2:p.Ile595=
NM_001710.6:c.1785T>A MANE Select	NP_001701.2:p.Ile595=