Canonical Allele Identifier: CA363408712

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918431C>G (hg19) ; chr6:g.31950654C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950654C>G , CM000668.2:g.31950654C>G	GRCh38
NC_000006.11:g.31918431C>G , CM000668.1:g.31918431C>G	GRCh37
NC_000006.10:g.32026410C>G	NCBI36
NG_008191.1:g.9711C>G , LRG_136:g.9711C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2052C>G
ENST00000483004.2:c.1444C>G	ENSP00000419887.2:p.Leu482Val
ENST00000698628.1:c.1624+251C>G	ENSP00000513848.1:n.1624+251C>G
ENST00000698629.1:n.1837C>G
ENST00000698630.1:n.2376C>G
ENST00000698631.1:n.2377C>G
ENST00000698632.1:n.3171C>G
ENST00000698633.1:n.3061C>G
ENST00000698636.1:n.1882C>G
ENST00000425368.7:c.1660C>G MANE Select	ENSP00000416561.2:p.Leu554Val
ENST00000425368.6:c.1660C>G	ENSP00000416561.2:p.Leu554Val
ENST00000456570.5:c.3166C>G	ENSP00000410815.1:p.Leu1056Val
ENST00000467360.1:n.786C>G
ENST00000477310.1:c.2713C>G	ENSP00000418996.1:p.Leu905Val
ENST00000483004.1:c.282C>G
NM_001710.5:c.1660C>G , LRG_136t1:c.1660C>G	NP_001701.2:p.Leu554Val
NM_001710.6:c.1660C>G MANE Select	NP_001701.2:p.Leu554Val