Canonical Allele Identifier: CA363409889

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918683C>T (hg19) ; chr6:g.31950906C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950906C>T , CM000668.2:g.31950906C>T	GRCh38
NC_000006.11:g.31918683C>T , CM000668.1:g.31918683C>T	GRCh37
NC_000006.10:g.32026662C>T	NCBI36
NG_008191.1:g.9963C>T , LRG_136:g.9963C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2304C>T
ENST00000483004.2:c.1601C>T	ENSP00000419887.2:p.Ala534Val
ENST00000698628.1:c.1625-238C>T	ENSP00000513848.1:n.1625-238C>T
ENST00000698629.1:n.2089C>T
ENST00000698630.1:n.2533C>T
ENST00000698631.1:n.2534C>T
ENST00000698632.1:n.3423C>T
ENST00000698633.1:n.3313C>T
ENST00000425368.7:c.1817C>T MANE Select	ENSP00000416561.2:p.Ala606Val
ENST00000425368.6:c.1817C>T	ENSP00000416561.2:p.Ala606Val
ENST00000456570.5:c.3323C>T	ENSP00000410815.1:p.Ala1108Val
ENST00000467360.1:n.943C>T
ENST00000477310.1:c.2870C>T	ENSP00000418996.1:p.Ala957Val
ENST00000482312.1:n.33C>T
ENST00000483004.1:c.439C>T
NM_001710.5:c.1817C>T , LRG_136t1:c.1817C>T	NP_001701.2:p.Ala606Val
NM_001710.6:c.1817C>T MANE Select	NP_001701.2:p.Ala606Val