Canonical Allele Identifier: CA2678072448

Gene: CFB

Linked Data

• gnomAD v4: 6-31946560-C-CCTGAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946563_31946569dup , CM000668.2:g.31946563_31946569dup	GRCh38
NC_000006.11:g.31914340_31914346dup , CM000668.1:g.31914340_31914346dup	GRCh37
NC_000006.10:g.32022319_32022325dup	NCBI36
NG_008191.1:g.5620_5626dup , LRG_136:g.5620_5626dup
NG_011730.1:g.24075_24081dup , LRG_26:g.24075_24081dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.432_438dup
ENST00000483004.2:c.255_261dup	ENSP00000419887.2:p.Gln88GlufsTer?
ENST00000497841.6:c.255_261dup	ENSP00000513847.1:p.Gln88GlufsTer?
ENST00000698628.1:c.255_261dup	ENSP00000513848.1:p.Gln88GlufsTer?
ENST00000698629.1:n.432_438dup
ENST00000698630.1:n.416_422dup
ENST00000698631.1:n.411_417dup
ENST00000698632.1:n.383_389dup
ENST00000698633.1:n.353_359dup
ENST00000698636.1:n.477_483dup
ENST00000425368.7:c.255_261dup MANE Select	ENSP00000416561.2:p.Gln88GlufsTer?
ENST00000425368.6:c.255_261dup	ENSP00000416561.2:p.Gln88GlufsTer?
ENST00000452035.6:n.255_261dup
ENST00000456570.5:c.1761_1767dup	ENSP00000410815.1:p.Gln590GlufsTer?
ENST00000460718.5:c.142_148dup	ENSP00000417793.1:p.Ser50Ter
ENST00000472581.1:n.502_508dup
ENST00000475617.5:c.255_261dup	ENSP00000420090.1:p.Gln88GlufsTer?
ENST00000477310.1:c.1352-444_1352-438dup	ENSP00000418996.1:n.1352-444_1352-438dup
NM_001710.5:c.255_261dup , LRG_136t1:c.255_261dup	NP_001701.2:p.Gln88GlufsTer?
NM_001710.6:c.255_261dup MANE Select	NP_001701.2:p.Gln88GlufsTer?