Canonical Allele Identifier: CA363413346

Gene: CFB

Linked Data

• gnomAD v4: 6-31951564-G-A
• MyVariant Identifiers: chr6:g.31919341G>A (hg19) ; chr6:g.31951564G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951564G>A , CM000668.2:g.31951564G>A	GRCh38
NC_000006.11:g.31919341G>A , CM000668.1:g.31919341G>A	GRCh37
NC_000006.10:g.32027320G>A	NCBI36
NG_008191.1:g.10621G>A , LRG_136:g.10621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2533G>A
ENST00000483004.2:c.1883G>A	ENSP00000419887.2:p.Gly628Asp
ENST00000698628.1:c.1868G>A	ENSP00000513848.1:p.Gly623Asp
ENST00000698629.1:n.2318G>A
ENST00000698630.1:n.2815G>A
ENST00000698631.1:n.2816G>A
ENST00000698632.1:n.3904G>A
ENST00000698633.1:n.3794G>A
ENST00000425368.7:c.2099G>A MANE Select	ENSP00000416561.2:p.Gly700Asp
ENST00000425368.6:c.2099G>A	ENSP00000416561.2:p.Gly700Asp
ENST00000456570.5:c.3605G>A	ENSP00000410815.1:p.Gly1202Asp
ENST00000477310.1:c.3152G>A	ENSP00000418996.1:p.Gly1051Asp
ENST00000482312.1:n.514G>A
ENST00000483004.1:c.721G>A
ENST00000498317.1:c.69G>A
NM_001710.5:c.2099G>A , LRG_136t1:c.2099G>A	NP_001701.2:p.Gly700Asp
NM_001710.6:c.2099G>A MANE Select	NP_001701.2:p.Gly700Asp