Canonical Allele Identifier: CA1619378309

Gene: CFB

Linked Data

• dbSNP Id: rs1771683138

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950400del , CM000668.2:g.31950400del	GRCh38
NC_000006.11:g.31918177del , CM000668.1:g.31918177del	GRCh37
NC_000006.10:g.32026156del	NCBI36
NG_008191.1:g.9457del , LRG_136:g.9457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1798del
ENST00000483004.2:c.1409-219del	ENSP00000419887.2:n.1409-219del
ENST00000698628.1:c.1621del	ENSP00000513848.1:p.Val541Ter
ENST00000698629.1:n.1798del
ENST00000698630.1:n.2337del
ENST00000698631.1:n.2338del
ENST00000698632.1:n.2917del
ENST00000698633.1:n.2807del
ENST00000698636.1:n.1843del
ENST00000425368.7:c.1621del MANE Select	ENSP00000416561.2:p.Val541Ter
ENST00000425368.6:c.1621del	ENSP00000416561.2:p.Val541Ter
ENST00000452035.6:n.1621del
ENST00000456570.5:c.3127del	ENSP00000410815.1:p.Val1043Ter
ENST00000467360.1:n.532del
ENST00000477310.1:c.2674del	ENSP00000418996.1:p.Val892Ter
ENST00000483004.1:c.247-219del
NM_001710.5:c.1621del , LRG_136t1:c.1621del	NP_001701.2:p.Val541Ter
NM_001710.6:c.1621del MANE Select	NP_001701.2:p.Val541Ter