Canonical Allele Identifier: CA3728413
Gene: CFB HGNC NCBI

Linked Data

dbSNP Id: rs200572096

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950590_31950591del , CM000668.2:g.31950590_31950591del GRCh38
NC_000006.11:g.31918367_31918368del , CM000668.1:g.31918367_31918368del GRCh37
NC_000006.10:g.32026346_32026347del NCBI36
NG_008191.1:g.9647_9648del , LRG_136:g.9647_9648del

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.1988_1989del
ENST00000483004.2:c.1409-29_1409-28del ENSP00000419887.2:n.1409-29_1409-28del
ENST00000698628.1:c.1624+187_1624+188del ENSP00000513848.1:n.1624+187_1624+188del
ENST00000698629.1:n.1802-29_1802-28del
ENST00000698630.1:n.2341-29_2341-28del
ENST00000698631.1:n.2342-29_2342-28del
ENST00000698632.1:n.3107_3108del
ENST00000698633.1:n.2997_2998del
ENST00000698636.1:n.1847-29_1847-28del
ENST00000425368.7:c.1625-29_1625-28del MANE Select ENSP00000416561.2:n.1625-29_1625-28del
ENST00000425368.6:c.1625-29_1625-28del ENSP00000416561.2:n.1625-29_1625-28del
ENST00000452035.6:n.1811_1812del
ENST00000456570.5:c.3131-29_3131-28del ENSP00000410815.1:n.3131-29_3131-28del
ENST00000467360.1:n.722_723del
ENST00000477310.1:c.2678-29_2678-28del ENSP00000418996.1:n.2678-29_2678-28del
ENST00000483004.1:c.247-29_247-28del
NM_001710.5:c.1625-29_1625-28del , LRG_136t1:c.1625-29_1625-28del NP_001701.2:n.1625-29_1625-28del
NM_001710.6:c.1625-29_1625-28del MANE Select NP_001701.2:n.1625-29_1625-28del