Canonical Allele Identifier: CA363410108

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918706A>G (hg19) ; chr6:g.31950929A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950929A>G , CM000668.2:g.31950929A>G	GRCh38
NC_000006.11:g.31918706A>G , CM000668.1:g.31918706A>G	GRCh37
NC_000006.10:g.32026685A>G	NCBI36
NG_008191.1:g.9986A>G , LRG_136:g.9986A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2327A>G
ENST00000483004.2:c.1624A>G	ENSP00000419887.2:p.Thr542Ala
ENST00000698628.1:c.1625-215A>G	ENSP00000513848.1:n.1625-215A>G
ENST00000698629.1:n.2112A>G
ENST00000698630.1:n.2556A>G
ENST00000698631.1:n.2557A>G
ENST00000698632.1:n.3446A>G
ENST00000698633.1:n.3336A>G
ENST00000425368.7:c.1840A>G MANE Select	ENSP00000416561.2:p.Thr614Ala
ENST00000425368.6:c.1840A>G	ENSP00000416561.2:p.Thr614Ala
ENST00000456570.5:c.3346A>G	ENSP00000410815.1:p.Thr1116Ala
ENST00000467360.1:n.966A>G
ENST00000477310.1:c.2893A>G	ENSP00000418996.1:p.Thr965Ala
ENST00000482312.1:n.56A>G
ENST00000483004.1:c.462A>G
NM_001710.5:c.1840A>G , LRG_136t1:c.1840A>G	NP_001701.2:p.Thr614Ala
NM_001710.6:c.1840A>G MANE Select	NP_001701.2:p.Thr614Ala