Canonical Allele Identifier: CA363410281

Gene: CFB

Linked Data

• dbSNP Id: rs1771723632
• MyVariant Identifiers: chr6:g.31918718C>G (hg19) ; chr6:g.31950941C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950941C>G , CM000668.2:g.31950941C>G	GRCh38
NC_000006.11:g.31918718C>G , CM000668.1:g.31918718C>G	GRCh37
NC_000006.10:g.32026697C>G	NCBI36
NG_008191.1:g.9998C>G , LRG_136:g.9998C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2339C>G
ENST00000483004.2:c.1636C>G	ENSP00000419887.2:p.Gln546Glu
ENST00000698628.1:c.1625-203C>G	ENSP00000513848.1:n.1625-203C>G
ENST00000698629.1:n.2124C>G
ENST00000698630.1:n.2568C>G
ENST00000698631.1:n.2569C>G
ENST00000698632.1:n.3458C>G
ENST00000698633.1:n.3348C>G
ENST00000425368.7:c.1852C>G MANE Select	ENSP00000416561.2:p.Gln618Glu
ENST00000425368.6:c.1852C>G	ENSP00000416561.2:p.Gln618Glu
ENST00000456570.5:c.3358C>G	ENSP00000410815.1:p.Gln1120Glu
ENST00000467360.1:n.978C>G
ENST00000477310.1:c.2905C>G	ENSP00000418996.1:p.Gln969Glu
ENST00000482312.1:n.68C>G
ENST00000483004.1:c.474C>G
NM_001710.5:c.1852C>G , LRG_136t1:c.1852C>G	NP_001701.2:p.Gln618Glu
NM_001710.6:c.1852C>G MANE Select	NP_001701.2:p.Gln618Glu