Canonical Allele Identifier: CA2678074428

Gene: CFB

Linked Data

• gnomAD v4: 6-31951000-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951004_31951005del , CM000668.2:g.31951004_31951005del	GRCh38
NC_000006.11:g.31918781_31918782del , CM000668.1:g.31918781_31918782del	GRCh37
NC_000006.10:g.32026760_32026761del	NCBI36
NG_008191.1:g.10061_10062del , LRG_136:g.10061_10062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342+60_2342+61del
ENST00000483004.2:c.1639+60_1639+61del	ENSP00000419887.2:n.1639+60_1639+61del
ENST00000698628.1:c.1625-140_1625-139del	ENSP00000513848.1:n.1625-140_1625-139del
ENST00000698629.1:n.2127+60_2127+61del
ENST00000698630.1:n.2571+60_2571+61del
ENST00000698631.1:n.2572+60_2572+61del
ENST00000698632.1:n.3521_3522del
ENST00000698633.1:n.3411_3412del
ENST00000425368.7:c.1855+60_1855+61del MANE Select	ENSP00000416561.2:n.1855+60_1855+61del
ENST00000425368.6:c.1855+60_1855+61del	ENSP00000416561.2:n.1855+60_1855+61del
ENST00000456570.5:c.3361+60_3361+61del	ENSP00000410815.1:n.3361+60_3361+61del
ENST00000467360.1:n.981+60_981+61del
ENST00000477310.1:c.2908+60_2908+61del	ENSP00000418996.1:n.2908+60_2908+61del
ENST00000482312.1:n.131_132del
ENST00000483004.1:c.477+60_477+61del
NM_001710.5:c.1855+60_1855+61del , LRG_136t1:c.1855+60_1855+61del	NP_001701.2:n.1855+60_1855+61del
NM_001710.6:c.1855+60_1855+61del MANE Select	NP_001701.2:n.1855+60_1855+61del