Canonical Allele Identifier: CA2697546674

Gene: CFB

Linked Data

• ClinVar Variation Id: 2692873
• ClinVar RCV Id: RCV003543238

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950946_31950947delinsAC , CM000668.2:g.31950946_31950947delinsAC	GRCh38
NC_000006.11:g.31918723_31918724delinsAC , CM000668.1:g.31918723_31918724delinsAC	GRCh37
NC_000006.10:g.32026702_32026703delinsAC	NCBI36
NG_008191.1:g.10003_10004delinsAC , LRG_136:g.10003_10004delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342+2_2342+3delinsAC
ENST00000483004.2:c.1639+2_1639+3delinsAC	ENSP00000419887.2:n.1639+2_1639+3delinsAC
ENST00000698628.1:c.1625-198_1625-197delinsAC	ENSP00000513848.1:n.1625-198_1625-197delinsAC
ENST00000698629.1:n.2127+2_2127+3delinsAC
ENST00000698630.1:n.2571+2_2571+3delinsAC
ENST00000698631.1:n.2572+2_2572+3delinsAC
ENST00000698632.1:n.3463_3464delinsAC
ENST00000698633.1:n.3353_3354delinsAC
ENST00000425368.7:c.1855+2_1855+3delinsAC MANE Select	ENSP00000416561.2:n.1855+2_1855+3delinsAC
ENST00000425368.6:c.1855+2_1855+3delinsAC	ENSP00000416561.2:n.1855+2_1855+3delinsAC
ENST00000456570.5:c.3361+2_3361+3delinsAC	ENSP00000410815.1:n.3361+2_3361+3delinsAC
ENST00000467360.1:n.981+2_981+3delinsAC
ENST00000477310.1:c.2908+2_2908+3delinsAC	ENSP00000418996.1:n.2908+2_2908+3delinsAC
ENST00000482312.1:n.73_74delinsAC
ENST00000483004.1:c.477+2_477+3delinsAC
NM_001710.5:c.1855+2_1855+3delinsAC , LRG_136t1:c.1855+2_1855+3delinsAC	NP_001701.2:n.1855+2_1855+3delinsAC
NM_001710.6:c.1855+2_1855+3delinsAC MANE Select	NP_001701.2:n.1855+2_1855+3delinsAC