Canonical Allele Identifier: CA2578572469

Gene: CFB

Linked Data

• gnomAD v4: 6-31950941-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950944del , CM000668.2:g.31950944del	GRCh38
NC_000006.11:g.31918721del , CM000668.1:g.31918721del	GRCh37
NC_000006.10:g.32026700del	NCBI36
NG_008191.1:g.10001del , LRG_136:g.10001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342del
ENST00000483004.2:c.1639del	ENSP00000419887.2:p.Lys547ArgfsTer22
ENST00000698628.1:c.1625-200del	ENSP00000513848.1:n.1625-200del
ENST00000698629.1:n.2127del
ENST00000698630.1:n.2571del
ENST00000698631.1:n.2572del
ENST00000698632.1:n.3461del
ENST00000698633.1:n.3351del
ENST00000425368.7:c.1855del MANE Select	ENSP00000416561.2:p.Lys619ArgfsTer22
ENST00000425368.6:c.1855del	ENSP00000416561.2:p.Lys619ArgfsTer22
ENST00000456570.5:c.3361del	ENSP00000410815.1:p.Lys1121ArgfsTer22
ENST00000467360.1:n.981del
ENST00000477310.1:c.2908del	ENSP00000418996.1:p.Lys970ArgfsTer22
ENST00000482312.1:n.71del
ENST00000483004.1:c.477del
NM_001710.5:c.1855del , LRG_136t1:c.1855del	NP_001701.2:p.Lys619ArgfsTer22
NM_001710.6:c.1855del MANE Select	NP_001701.2:p.Lys619ArgfsTer22