Canonical Allele Identifier: CA2678073885

Gene: CFB

Linked Data

• gnomAD v4: 6-31950585-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950588_31950589del , CM000668.2:g.31950588_31950589del	GRCh38
NC_000006.11:g.31918365_31918366del , CM000668.1:g.31918365_31918366del	GRCh37
NC_000006.10:g.32026344_32026345del	NCBI36
NG_008191.1:g.9645_9646del , LRG_136:g.9645_9646del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1986_1987del
ENST00000483004.2:c.1409-31_1409-30del	ENSP00000419887.2:n.1409-31_1409-30del
ENST00000698628.1:c.1624+185_1624+186del	ENSP00000513848.1:n.1624+185_1624+186del
ENST00000698629.1:n.1802-31_1802-30del
ENST00000698630.1:n.2341-31_2341-30del
ENST00000698631.1:n.2342-31_2342-30del
ENST00000698632.1:n.3105_3106del
ENST00000698633.1:n.2995_2996del
ENST00000698636.1:n.1847-31_1847-30del
ENST00000425368.7:c.1625-31_1625-30del MANE Select	ENSP00000416561.2:n.1625-31_1625-30del
ENST00000425368.6:c.1625-31_1625-30del	ENSP00000416561.2:n.1625-31_1625-30del
ENST00000452035.6:n.1809_1810del
ENST00000456570.5:c.3131-31_3131-30del	ENSP00000410815.1:n.3131-31_3131-30del
ENST00000467360.1:n.720_721del
ENST00000477310.1:c.2678-31_2678-30del	ENSP00000418996.1:n.2678-31_2678-30del
ENST00000483004.1:c.247-31_247-30del
NM_001710.5:c.1625-31_1625-30del , LRG_136t1:c.1625-31_1625-30del	NP_001701.2:n.1625-31_1625-30del
NM_001710.6:c.1625-31_1625-30del MANE Select	NP_001701.2:n.1625-31_1625-30del