Canonical Allele Identifier: CA449687026

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918660C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950883C>G , CM000668.2:g.31950883C>G	GRCh38
NC_000006.11:g.31918660C>G , CM000668.1:g.31918660C>G	GRCh37
NC_000006.10:g.32026639C>G	NCBI36
NG_008191.1:g.9940C>G , LRG_136:g.9940C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2281C>G
ENST00000483004.2:c.1578C>G	ENSP00000419887.2:p.Pro526=
ENST00000698628.1:c.1625-261C>G	ENSP00000513848.1:n.1625-261C>G
ENST00000698629.1:n.2066C>G
ENST00000698630.1:n.2510C>G
ENST00000698631.1:n.2511C>G
ENST00000698632.1:n.3400C>G
ENST00000698633.1:n.3290C>G
ENST00000425368.7:c.1794C>G MANE Select	ENSP00000416561.2:p.Pro598=
ENST00000425368.6:c.1794C>G	ENSP00000416561.2:p.Pro598=
ENST00000456570.5:c.3300C>G	ENSP00000410815.1:p.Pro1100=
ENST00000467360.1:n.920C>G
ENST00000477310.1:c.2847C>G	ENSP00000418996.1:p.Pro949=
ENST00000482312.1:n.10C>G
ENST00000483004.1:c.416C>G
NM_001710.5:c.1794C>G , LRG_136t1:c.1794C>G	NP_001701.2:p.Pro598=
NM_001710.6:c.1794C>G MANE Select	NP_001701.2:p.Pro598=