Canonical Allele Identifier: CA363388292

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31914222G>T (hg19) ; chr6:g.31946445G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946445G>T , CM000668.2:g.31946445G>T	GRCh38
NC_000006.11:g.31914222G>T , CM000668.1:g.31914222G>T	GRCh37
NC_000006.10:g.32022201G>T	NCBI36
NG_008191.1:g.5502G>T , LRG_136:g.5502G>T
NG_011730.1:g.23957G>T , LRG_26:g.23957G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.314G>T
ENST00000483004.2:c.137G>T	ENSP00000419887.2:p.Gly46Val
ENST00000497841.6:c.137G>T	ENSP00000513847.1:p.Gly46Val
ENST00000698628.1:c.137G>T	ENSP00000513848.1:p.Gly46Val
ENST00000698629.1:n.314G>T
ENST00000698630.1:n.298G>T
ENST00000698631.1:n.293G>T
ENST00000698632.1:n.265G>T
ENST00000698633.1:n.235G>T
ENST00000698636.1:n.359G>T
ENST00000425368.7:c.137G>T MANE Select	ENSP00000416561.2:p.Gly46Val
ENST00000425368.6:c.137G>T	ENSP00000416561.2:p.Gly46Val
ENST00000452035.6:n.137G>T
ENST00000456570.5:c.1643G>T	ENSP00000410815.1:p.Gly548Val
ENST00000460718.5:c.65-41G>T	ENSP00000417793.1:n.65-41G>T
ENST00000472581.1:n.384G>T
ENST00000475617.5:c.137G>T	ENSP00000420090.1:p.Gly46Val
ENST00000477310.1:c.1352-562G>T	ENSP00000418996.1:n.1352-562G>T
NM_001710.5:c.137G>T , LRG_136t1:c.137G>T	NP_001701.2:p.Gly46Val
NM_001710.6:c.137G>T MANE Select	NP_001701.2:p.Gly46Val