Canonical Allele Identifier: CA1619378535

Gene: CFB

Linked Data

• dbSNP Id: rs1771703455

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950669_31950674del , CM000668.2:g.31950669_31950674del	GRCh38
NC_000006.11:g.31918446_31918451del , CM000668.1:g.31918446_31918451del	GRCh37
NC_000006.10:g.32026425_32026430del	NCBI36
NG_008191.1:g.9726_9731del , LRG_136:g.9726_9731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2067_2072del
ENST00000483004.2:c.1459_1464del	ENSP00000419887.2:p.Tyr487_Asn488del
ENST00000698628.1:c.1624+266_1624+271del	ENSP00000513848.1:n.1624+266_1624+271del
ENST00000698629.1:n.1852_1857del
ENST00000698630.1:n.2391_2396del
ENST00000698631.1:n.2392_2397del
ENST00000698632.1:n.3186_3191del
ENST00000698633.1:n.3076_3081del
ENST00000698636.1:n.1897_1902del
ENST00000425368.7:c.1675_1680del MANE Select	ENSP00000416561.2:p.Tyr559_Asn560del
ENST00000425368.6:c.1675_1680del	ENSP00000416561.2:p.Tyr559_Asn560del
ENST00000456570.5:c.3181_3186del	ENSP00000410815.1:p.Tyr1061_Asn1062del
ENST00000467360.1:n.801_806del
ENST00000477310.1:c.2728_2733del	ENSP00000418996.1:p.Tyr910_Asn911del
ENST00000483004.1:c.297_302del
NM_001710.5:c.1675_1680del , LRG_136t1:c.1675_1680del	NP_001701.2:p.Tyr559_Asn560del
NM_001710.6:c.1675_1680del MANE Select	NP_001701.2:p.Tyr559_Asn560del