Canonical Allele Identifier: CA363409288

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918524A>G (hg19) ; chr6:g.31950747A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950747A>G , CM000668.2:g.31950747A>G	GRCh38
NC_000006.11:g.31918524A>G , CM000668.1:g.31918524A>G	GRCh37
NC_000006.10:g.32026503A>G	NCBI36
NG_008191.1:g.9804A>G , LRG_136:g.9804A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2145A>G
ENST00000483004.2:c.1537A>G	ENSP00000419887.2:p.Lys513Glu
ENST00000698628.1:c.1624+344A>G	ENSP00000513848.1:n.1624+344A>G
ENST00000698629.1:n.1930A>G
ENST00000698630.1:n.2469A>G
ENST00000698631.1:n.2470A>G
ENST00000698632.1:n.3264A>G
ENST00000698633.1:n.3154A>G
ENST00000698636.1:n.1975A>G
ENST00000425368.7:c.1753A>G MANE Select	ENSP00000416561.2:p.Lys585Glu
ENST00000425368.6:c.1753A>G	ENSP00000416561.2:p.Lys585Glu
ENST00000456570.5:c.3259A>G	ENSP00000410815.1:p.Lys1087Glu
ENST00000467360.1:n.879A>G
ENST00000477310.1:c.2806A>G	ENSP00000418996.1:p.Lys936Glu
ENST00000483004.1:c.375A>G
NM_001710.5:c.1753A>G , LRG_136t1:c.1753A>G	NP_001701.2:p.Lys585Glu
NM_001710.6:c.1753A>G MANE Select	NP_001701.2:p.Lys585Glu