Canonical Allele Identifier: CA2678072752

Gene: CFB

Linked Data

• gnomAD v4: 6-31946726-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946730del , CM000668.2:g.31946730del	GRCh38
NC_000006.11:g.31914507del , CM000668.1:g.31914507del	GRCh37
NC_000006.10:g.32022486del	NCBI36
NG_008191.1:g.5787del , LRG_136:g.5787del
NG_011730.1:g.24242del , LRG_26:g.24242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.475+124del
ENST00000483004.2:c.298+124del	ENSP00000419887.2:n.298+124del
ENST00000497841.6:c.298+124del	ENSP00000513847.1:n.298+124del
ENST00000698628.1:c.298+124del	ENSP00000513848.1:n.298+124del
ENST00000698629.1:n.475+124del
ENST00000698630.1:n.583del
ENST00000698631.1:n.578del
ENST00000698632.1:n.550del
ENST00000698633.1:n.520del
ENST00000698636.1:n.520+124del
ENST00000425368.7:c.298+124del MANE Select	ENSP00000416561.2:n.298+124del
ENST00000425368.6:c.298+124del	ENSP00000416561.2:n.298+124del
ENST00000452035.6:n.298+124del
ENST00000456570.5:c.1804+124del	ENSP00000410815.1:n.1804+124del
ENST00000460718.5:c.185+124del	ENSP00000417793.1:n.185+124del
ENST00000472581.1:n.669del
ENST00000475617.5:c.298+124del	ENSP00000420090.1:n.298+124del
ENST00000477310.1:c.1352-277del	ENSP00000418996.1:n.1352-277del
NM_001710.5:c.298+124del , LRG_136t1:c.298+124del	NP_001701.2:n.298+124del
NM_001710.6:c.298+124del MANE Select	NP_001701.2:n.298+124del