Canonical Allele Identifier: CA2678073580

Gene: CFB

Linked Data

• gnomAD v4: 6-31950384-C-CTCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950389_31950392dup , CM000668.2:g.31950389_31950392dup	GRCh38
NC_000006.11:g.31918166_31918169dup , CM000668.1:g.31918166_31918169dup	GRCh37
NC_000006.10:g.32026145_32026148dup	NCBI36
NG_008191.1:g.9446_9449dup , LRG_136:g.9446_9449dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1787_1790dup
ENST00000483004.2:c.1409-230_1409-227dup	ENSP00000419887.2:n.1409-230_1409-227dup
ENST00000698628.1:c.1610_1613dup	ENSP00000513848.1:p.Lys538AsnfsTer22
ENST00000698629.1:n.1787_1790dup
ENST00000698630.1:n.2326_2329dup
ENST00000698631.1:n.2327_2330dup
ENST00000698632.1:n.2906_2909dup
ENST00000698633.1:n.2796_2799dup
ENST00000698636.1:n.1832_1835dup
ENST00000425368.7:c.1610_1613dup MANE Select	ENSP00000416561.2:p.Lys538AsnfsTer26
ENST00000425368.6:c.1610_1613dup	ENSP00000416561.2:p.Lys538AsnfsTer26
ENST00000452035.6:n.1610_1613dup
ENST00000456570.5:c.3116_3119dup	ENSP00000410815.1:p.Lys1040AsnfsTer26
ENST00000467360.1:n.521_524dup
ENST00000477310.1:c.2663_2666dup	ENSP00000418996.1:p.Lys889AsnfsTer26
ENST00000483004.1:c.247-230_247-227dup
NM_001710.5:c.1610_1613dup , LRG_136t1:c.1610_1613dup	NP_001701.2:p.Lys538AsnfsTer26
NM_001710.6:c.1610_1613dup MANE Select	NP_001701.2:p.Lys538AsnfsTer26