Canonical Allele Identifier: CA823922827

Gene: CFB

Linked Data

• dbSNP Id: rs1175761354
• gnomAD v3: 6-31950669-TACA-T
• gnomAD v4: 6-31950669-TACA-T
• MyVariant Identifiers: chr6:g.31918447_31918449del (hg19) ; chr6:g.31950670_31950672del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950673_31950675del , CM000668.2:g.31950673_31950675del	GRCh38
NC_000006.11:g.31918450_31918452del , CM000668.1:g.31918450_31918452del	GRCh37
NC_000006.10:g.32026429_32026431del	NCBI36
NG_008191.1:g.9730_9732del , LRG_136:g.9730_9732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2071_2073del
ENST00000483004.2:c.1463_1465del	ENSP00000419887.2:p.Asn488del
ENST00000698628.1:c.1624+270_1624+272del	ENSP00000513848.1:n.1624+270_1624+272del
ENST00000698629.1:n.1856_1858del
ENST00000698630.1:n.2395_2397del
ENST00000698631.1:n.2396_2398del
ENST00000698632.1:n.3190_3192del
ENST00000698633.1:n.3080_3082del
ENST00000698636.1:n.1901_1903del
ENST00000425368.7:c.1679_1681del MANE Select	ENSP00000416561.2:p.Asn560del
ENST00000425368.6:c.1679_1681del	ENSP00000416561.2:p.Asn560del
ENST00000456570.5:c.3185_3187del	ENSP00000410815.1:p.Asn1062del
ENST00000467360.1:n.805_807del
ENST00000477310.1:c.2732_2734del	ENSP00000418996.1:p.Asn911del
ENST00000483004.1:c.301_303del
NM_001710.5:c.1679_1681del , LRG_136t1:c.1679_1681del	NP_001701.2:p.Asn560del
NM_001710.6:c.1679_1681del MANE Select	NP_001701.2:p.Asn560del