Canonical Allele Identifier: CA1619378379

Gene: CFB

Linked Data

• dbSNP Id: rs1771689595

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950492_31950493del , CM000668.2:g.31950492_31950493del	GRCh38
NC_000006.11:g.31918269_31918270del , CM000668.1:g.31918269_31918270del	GRCh37
NC_000006.10:g.32026248_32026249del	NCBI36
NG_008191.1:g.9549_9550del , LRG_136:g.9549_9550del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1890_1891del
ENST00000483004.2:c.1409-127_1409-126del	ENSP00000419887.2:n.1409-127_1409-126del
ENST00000698628.1:c.1624+89_1624+90del	ENSP00000513848.1:n.1624+89_1624+90del
ENST00000698629.1:n.1801+89_1801+90del
ENST00000698630.1:n.2340+89_2340+90del
ENST00000698631.1:n.2341+89_2341+90del
ENST00000698632.1:n.3009_3010del
ENST00000698633.1:n.2899_2900del
ENST00000698636.1:n.1846+89_1846+90del
ENST00000425368.7:c.1624+89_1624+90del MANE Select	ENSP00000416561.2:n.1624+89_1624+90del
ENST00000425368.6:c.1624+89_1624+90del	ENSP00000416561.2:n.1624+89_1624+90del
ENST00000452035.6:n.1713_1714del
ENST00000456570.5:c.3130+89_3130+90del	ENSP00000410815.1:n.3130+89_3130+90del
ENST00000467360.1:n.624_625del
ENST00000477310.1:c.2677+89_2677+90del	ENSP00000418996.1:n.2677+89_2677+90del
ENST00000483004.1:c.247-127_247-126del
NM_001710.5:c.1624+89_1624+90del , LRG_136t1:c.1624+89_1624+90del	NP_001701.2:n.1624+89_1624+90del
NM_001710.6:c.1624+89_1624+90del MANE Select	NP_001701.2:n.1624+89_1624+90del