Canonical Allele Identifier: CA363409119

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918498A>G (hg19) ; chr6:g.31950721A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950721A>G , CM000668.2:g.31950721A>G	GRCh38
NC_000006.11:g.31918498A>G , CM000668.1:g.31918498A>G	GRCh37
NC_000006.10:g.32026477A>G	NCBI36
NG_008191.1:g.9778A>G , LRG_136:g.9778A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2119A>G
ENST00000483004.2:c.1511A>G	ENSP00000419887.2:p.Asp504Gly
ENST00000698628.1:c.1624+318A>G	ENSP00000513848.1:n.1624+318A>G
ENST00000698629.1:n.1904A>G
ENST00000698630.1:n.2443A>G
ENST00000698631.1:n.2444A>G
ENST00000698632.1:n.3238A>G
ENST00000698633.1:n.3128A>G
ENST00000698636.1:n.1949A>G
ENST00000425368.7:c.1727A>G MANE Select	ENSP00000416561.2:p.Asp576Gly
ENST00000425368.6:c.1727A>G	ENSP00000416561.2:p.Asp576Gly
ENST00000456570.5:c.3233A>G	ENSP00000410815.1:p.Asp1078Gly
ENST00000467360.1:n.853A>G
ENST00000477310.1:c.2780A>G	ENSP00000418996.1:p.Asp927Gly
ENST00000483004.1:c.349A>G
NM_001710.5:c.1727A>G , LRG_136t1:c.1727A>G	NP_001701.2:p.Asp576Gly
NM_001710.6:c.1727A>G MANE Select	NP_001701.2:p.Asp576Gly