Canonical Allele Identifier: CA363409219

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918515C>G (hg19) ; chr6:g.31950738C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950738C>G , CM000668.2:g.31950738C>G	GRCh38
NC_000006.11:g.31918515C>G , CM000668.1:g.31918515C>G	GRCh37
NC_000006.10:g.32026494C>G	NCBI36
NG_008191.1:g.9795C>G , LRG_136:g.9795C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2136C>G
ENST00000483004.2:c.1528C>G	ENSP00000419887.2:p.Leu510Val
ENST00000698628.1:c.1624+335C>G	ENSP00000513848.1:n.1624+335C>G
ENST00000698629.1:n.1921C>G
ENST00000698630.1:n.2460C>G
ENST00000698631.1:n.2461C>G
ENST00000698632.1:n.3255C>G
ENST00000698633.1:n.3145C>G
ENST00000698636.1:n.1966C>G
ENST00000425368.7:c.1744C>G MANE Select	ENSP00000416561.2:p.Leu582Val
ENST00000425368.6:c.1744C>G	ENSP00000416561.2:p.Leu582Val
ENST00000456570.5:c.3250C>G	ENSP00000410815.1:p.Leu1084Val
ENST00000467360.1:n.870C>G
ENST00000477310.1:c.2797C>G	ENSP00000418996.1:p.Leu933Val
ENST00000483004.1:c.366C>G
NM_001710.5:c.1744C>G , LRG_136t1:c.1744C>G	NP_001701.2:p.Leu582Val
NM_001710.6:c.1744C>G MANE Select	NP_001701.2:p.Leu582Val