Canonical Allele Identifier: CA449687229

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918696T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950919T>G , CM000668.2:g.31950919T>G	GRCh38
NC_000006.11:g.31918696T>G , CM000668.1:g.31918696T>G	GRCh37
NC_000006.10:g.32026675T>G	NCBI36
NG_008191.1:g.9976T>G , LRG_136:g.9976T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2317T>G
ENST00000483004.2:c.1614T>G	ENSP00000419887.2:p.Pro538=
ENST00000698628.1:c.1625-225T>G	ENSP00000513848.1:n.1625-225T>G
ENST00000698629.1:n.2102T>G
ENST00000698630.1:n.2546T>G
ENST00000698631.1:n.2547T>G
ENST00000698632.1:n.3436T>G
ENST00000698633.1:n.3326T>G
ENST00000425368.7:c.1830T>G MANE Select	ENSP00000416561.2:p.Pro610=
ENST00000425368.6:c.1830T>G	ENSP00000416561.2:p.Pro610=
ENST00000456570.5:c.3336T>G	ENSP00000410815.1:p.Pro1112=
ENST00000467360.1:n.956T>G
ENST00000477310.1:c.2883T>G	ENSP00000418996.1:p.Pro961=
ENST00000482312.1:n.46T>G
ENST00000483004.1:c.452T>G
NM_001710.5:c.1830T>G , LRG_136t1:c.1830T>G	NP_001701.2:p.Pro610=
NM_001710.6:c.1830T>G MANE Select	NP_001701.2:p.Pro610=