Canonical Allele Identifier: CA2678074459

Gene: CFB

Linked Data

• gnomAD v4: 6-31951083-AAAGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951086_31951090del , CM000668.2:g.31951086_31951090del	GRCh38
NC_000006.11:g.31918863_31918867del , CM000668.1:g.31918863_31918867del	GRCh37
NC_000006.10:g.32026842_32026846del	NCBI36
NG_008191.1:g.10143_10147del , LRG_136:g.10143_10147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2343-111_2343-107del
ENST00000483004.2:c.1640-58_1640-54del	ENSP00000419887.2:n.1640-58_1640-54del
ENST00000698628.1:c.1625-58_1625-54del	ENSP00000513848.1:n.1625-58_1625-54del
ENST00000698629.1:n.2128-111_2128-107del
ENST00000698630.1:n.2572-58_2572-54del
ENST00000698631.1:n.2573-58_2573-54del
ENST00000698632.1:n.3603_3607del
ENST00000698633.1:n.3493_3497del
ENST00000425368.7:c.1856-58_1856-54del MANE Select	ENSP00000416561.2:n.1856-58_1856-54del
ENST00000425368.6:c.1856-58_1856-54del	ENSP00000416561.2:n.1856-58_1856-54del
ENST00000456570.5:c.3362-58_3362-54del	ENSP00000410815.1:n.3362-58_3362-54del
ENST00000467360.1:n.982-58_982-54del
ENST00000477310.1:c.2909-58_2909-54del	ENSP00000418996.1:n.2909-58_2909-54del
ENST00000482312.1:n.213_217del
ENST00000483004.1:c.478-58_478-54del
NM_001710.5:c.1856-58_1856-54del , LRG_136t1:c.1856-58_1856-54del	NP_001701.2:n.1856-58_1856-54del
NM_001710.6:c.1856-58_1856-54del MANE Select	NP_001701.2:n.1856-58_1856-54del