Canonical Allele Identifier: CA363410237

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918715C>G (hg19) ; chr6:g.31950938C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950938C>G , CM000668.2:g.31950938C>G	GRCh38
NC_000006.11:g.31918715C>G , CM000668.1:g.31918715C>G	GRCh37
NC_000006.10:g.32026694C>G	NCBI36
NG_008191.1:g.9995C>G , LRG_136:g.9995C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2336C>G
ENST00000483004.2:c.1633C>G	ENSP00000419887.2:p.Gln545Glu
ENST00000698628.1:c.1625-206C>G	ENSP00000513848.1:n.1625-206C>G
ENST00000698629.1:n.2121C>G
ENST00000698630.1:n.2565C>G
ENST00000698631.1:n.2566C>G
ENST00000698632.1:n.3455C>G
ENST00000698633.1:n.3345C>G
ENST00000425368.7:c.1849C>G MANE Select	ENSP00000416561.2:p.Gln617Glu
ENST00000425368.6:c.1849C>G	ENSP00000416561.2:p.Gln617Glu
ENST00000456570.5:c.3355C>G	ENSP00000410815.1:p.Gln1119Glu
ENST00000467360.1:n.975C>G
ENST00000477310.1:c.2902C>G	ENSP00000418996.1:p.Gln968Glu
ENST00000482312.1:n.65C>G
ENST00000483004.1:c.471C>G
NM_001710.5:c.1849C>G , LRG_136t1:c.1849C>G	NP_001701.2:p.Gln617Glu
NM_001710.6:c.1849C>G MANE Select	NP_001701.2:p.Gln617Glu