Canonical Allele Identifier: CA363409101

Gene: CFB

Linked Data

• dbSNP Id: rs2151787112
• MyVariant Identifiers: chr6:g.31918495A>G (hg19) ; chr6:g.31950718A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950718A>G , CM000668.2:g.31950718A>G	GRCh38
NC_000006.11:g.31918495A>G , CM000668.1:g.31918495A>G	GRCh37
NC_000006.10:g.32026474A>G	NCBI36
NG_008191.1:g.9775A>G , LRG_136:g.9775A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2116A>G
ENST00000483004.2:c.1508A>G	ENSP00000419887.2:p.Tyr503Cys
ENST00000698628.1:c.1624+315A>G	ENSP00000513848.1:n.1624+315A>G
ENST00000698629.1:n.1901A>G
ENST00000698630.1:n.2440A>G
ENST00000698631.1:n.2441A>G
ENST00000698632.1:n.3235A>G
ENST00000698633.1:n.3125A>G
ENST00000698636.1:n.1946A>G
ENST00000425368.7:c.1724A>G MANE Select	ENSP00000416561.2:p.Tyr575Cys
ENST00000425368.6:c.1724A>G	ENSP00000416561.2:p.Tyr575Cys
ENST00000456570.5:c.3230A>G	ENSP00000410815.1:p.Tyr1077Cys
ENST00000467360.1:n.850A>G
ENST00000477310.1:c.2777A>G	ENSP00000418996.1:p.Tyr926Cys
ENST00000483004.1:c.346A>G
NM_001710.5:c.1724A>G , LRG_136t1:c.1724A>G	NP_001701.2:p.Tyr575Cys
NM_001710.6:c.1724A>G MANE Select	NP_001701.2:p.Tyr575Cys