Canonical Allele Identifier: CA2678074205

Gene: CFB

Linked Data

• gnomAD v4: 6-31950740-CAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950743_31950745del , CM000668.2:g.31950743_31950745del	GRCh38
NC_000006.11:g.31918520_31918522del , CM000668.1:g.31918520_31918522del	GRCh37
NC_000006.10:g.32026499_32026501del	NCBI36
NG_008191.1:g.9800_9802del , LRG_136:g.9800_9802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2141_2143del
ENST00000483004.2:c.1533_1535del	ENSP00000419887.2:p.Lys511del
ENST00000698628.1:c.1624+340_1624+342del	ENSP00000513848.1:n.1624+340_1624+342del
ENST00000698629.1:n.1926_1928del
ENST00000698630.1:n.2465_2467del
ENST00000698631.1:n.2466_2468del
ENST00000698632.1:n.3260_3262del
ENST00000698633.1:n.3150_3152del
ENST00000698636.1:n.1971_1973del
ENST00000425368.7:c.1749_1751del MANE Select	ENSP00000416561.2:p.Lys583del
ENST00000425368.6:c.1749_1751del	ENSP00000416561.2:p.Lys583del
ENST00000456570.5:c.3255_3257del	ENSP00000410815.1:p.Lys1085del
ENST00000467360.1:n.875_877del
ENST00000477310.1:c.2802_2804del	ENSP00000418996.1:p.Lys934del
ENST00000483004.1:c.371_373del
NM_001710.5:c.1749_1751del , LRG_136t1:c.1749_1751del	NP_001701.2:p.Lys583del
NM_001710.6:c.1749_1751del MANE Select	NP_001701.2:p.Lys583del