Canonical Allele Identifier: CA363388308

Gene: CFB

Linked Data

• gnomAD v4: 6-31946448-G-A
• COSMIC: COSM5870230
• MyVariant Identifiers: chr6:g.31914225G>A (hg19) ; chr6:g.31946448G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946448G>A , CM000668.2:g.31946448G>A	GRCh38
NC_000006.11:g.31914225G>A , CM000668.1:g.31914225G>A	GRCh37
NC_000006.10:g.32022204G>A	NCBI36
NG_008191.1:g.5505G>A , LRG_136:g.5505G>A
NG_011730.1:g.23960G>A , LRG_26:g.23960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.317G>A
ENST00000483004.2:c.140G>A	ENSP00000419887.2:p.Gly47Asp
ENST00000497841.6:c.140G>A	ENSP00000513847.1:p.Gly47Asp
ENST00000698628.1:c.140G>A	ENSP00000513848.1:p.Gly47Asp
ENST00000698629.1:n.317G>A
ENST00000698630.1:n.301G>A
ENST00000698631.1:n.296G>A
ENST00000698632.1:n.268G>A
ENST00000698633.1:n.238G>A
ENST00000698636.1:n.362G>A
ENST00000425368.7:c.140G>A MANE Select	ENSP00000416561.2:p.Gly47Asp
ENST00000425368.6:c.140G>A	ENSP00000416561.2:p.Gly47Asp
ENST00000452035.6:n.140G>A
ENST00000456570.5:c.1646G>A	ENSP00000410815.1:p.Gly549Asp
ENST00000460718.5:c.65-38G>A	ENSP00000417793.1:n.65-38G>A
ENST00000472581.1:n.387G>A
ENST00000475617.5:c.140G>A	ENSP00000420090.1:p.Gly47Asp
ENST00000477310.1:c.1352-559G>A	ENSP00000418996.1:n.1352-559G>A
NM_001710.5:c.140G>A , LRG_136t1:c.140G>A	NP_001701.2:p.Gly47Asp
NM_001710.6:c.140G>A MANE Select	NP_001701.2:p.Gly47Asp