Canonical Allele Identifier: CA2678073588

Gene: CFB

Linked Data

• gnomAD v4: 6-31950413-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950415del , CM000668.2:g.31950415del	GRCh38
NC_000006.11:g.31918192del , CM000668.1:g.31918192del	GRCh37
NC_000006.10:g.32026171del	NCBI36
NG_008191.1:g.9472del , LRG_136:g.9472del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1813del
ENST00000483004.2:c.1409-204del	ENSP00000419887.2:n.1409-204del
ENST00000698628.1:c.1624+12del	ENSP00000513848.1:n.1624+12del
ENST00000698629.1:n.1801+12del
ENST00000698630.1:n.2340+12del
ENST00000698631.1:n.2341+12del
ENST00000698632.1:n.2932del
ENST00000698633.1:n.2822del
ENST00000698636.1:n.1846+12del
ENST00000425368.7:c.1624+12del MANE Select	ENSP00000416561.2:n.1624+12del
ENST00000425368.6:c.1624+12del	ENSP00000416561.2:n.1624+12del
ENST00000452035.6:n.1636del
ENST00000456570.5:c.3130+12del	ENSP00000410815.1:n.3130+12del
ENST00000467360.1:n.547del
ENST00000477310.1:c.2677+12del	ENSP00000418996.1:n.2677+12del
ENST00000483004.1:c.247-204del
NM_001710.5:c.1624+12del , LRG_136t1:c.1624+12del	NP_001701.2:n.1624+12del
NM_001710.6:c.1624+12del MANE Select	NP_001701.2:n.1624+12del