Canonical Allele Identifier: CA1619374672
Gene: CFB HGNC NCBI

Linked Data

dbSNP Id: rs1771418149

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946328del , CM000668.2:g.31946328del GRCh38
NC_000006.11:g.31914105del , CM000668.1:g.31914105del GRCh37
NC_000006.10:g.32022084del NCBI36
NG_008191.1:g.5385del , LRG_136:g.5385del
NG_011730.1:g.23840del , LRG_26:g.23840del

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.241+43del
ENST00000483004.2:c.64+43del ENSP00000419887.2:n.64+43del
ENST00000497841.6:c.64+43del ENSP00000513847.1:n.64+43del
ENST00000698628.1:c.64+43del ENSP00000513848.1:n.64+43del
ENST00000698629.1:n.241+43del
ENST00000698630.1:n.225+43del
ENST00000698631.1:n.220+43del
ENST00000698632.1:n.192+43del
ENST00000698633.1:n.162+43del
ENST00000698636.1:n.286+43del
ENST00000425368.7:c.64+43del MANE Select ENSP00000416561.2:n.64+43del
ENST00000425368.6:c.64+43del ENSP00000416561.2:n.64+43del
ENST00000452035.6:n.64+43del
ENST00000456570.5:c.1571-45del ENSP00000410815.1:n.1571-45del
ENST00000460718.5:c.64+43del ENSP00000417793.1:n.64+43del
ENST00000472581.1:n.311+43del
ENST00000475617.5:c.64+43del ENSP00000420090.1:n.64+43del
ENST00000477310.1:c.1352-679del ENSP00000418996.1:n.1352-679del
NM_001710.5:c.64+43del , LRG_136t1:c.64+43del NP_001701.2:n.64+43del
NM_001710.6:c.64+43del MANE Select NP_001701.2:n.64+43del