Canonical Allele Identifier: CA363408759

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918436T>G (hg19) ; chr6:g.31950659T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950659T>G , CM000668.2:g.31950659T>G	GRCh38
NC_000006.11:g.31918436T>G , CM000668.1:g.31918436T>G	GRCh37
NC_000006.10:g.32026415T>G	NCBI36
NG_008191.1:g.9716T>G , LRG_136:g.9716T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2057T>G
ENST00000483004.2:c.1449T>G	ENSP00000419887.2:p.Phe483Leu
ENST00000698628.1:c.1624+256T>G	ENSP00000513848.1:n.1624+256T>G
ENST00000698629.1:n.1842T>G
ENST00000698630.1:n.2381T>G
ENST00000698631.1:n.2382T>G
ENST00000698632.1:n.3176T>G
ENST00000698633.1:n.3066T>G
ENST00000698636.1:n.1887T>G
ENST00000425368.7:c.1665T>G MANE Select	ENSP00000416561.2:p.Phe555Leu
ENST00000425368.6:c.1665T>G	ENSP00000416561.2:p.Phe555Leu
ENST00000456570.5:c.3171T>G	ENSP00000410815.1:p.Phe1057Leu
ENST00000467360.1:n.791T>G
ENST00000477310.1:c.2718T>G	ENSP00000418996.1:p.Phe906Leu
ENST00000483004.1:c.287T>G
NM_001710.5:c.1665T>G , LRG_136t1:c.1665T>G	NP_001701.2:p.Phe555Leu
NM_001710.6:c.1665T>G MANE Select	NP_001701.2:p.Phe555Leu