Canonical Allele Identifier: CA823919565

Gene: CFB

Linked Data

• dbSNP Id: rs1186092074
• gnomAD v3: 6-31946341-TG-T
• gnomAD v4: 6-31946341-TG-T
• MyVariant Identifiers: chr6:g.31914119del (hg19) ; chr6:g.31946342del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946345del , CM000668.2:g.31946345del	GRCh38
NC_000006.11:g.31914122del , CM000668.1:g.31914122del	GRCh37
NC_000006.10:g.32022101del	NCBI36
NG_008191.1:g.5402del , LRG_136:g.5402del
NG_011730.1:g.23857del , LRG_26:g.23857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.242-28del
ENST00000483004.2:c.65-28del	ENSP00000419887.2:n.65-28del
ENST00000497841.6:c.65-28del	ENSP00000513847.1:n.65-28del
ENST00000698628.1:c.65-28del	ENSP00000513848.1:n.65-28del
ENST00000698629.1:n.242-28del
ENST00000698630.1:n.226-28del
ENST00000698631.1:n.221-28del
ENST00000698632.1:n.193-28del
ENST00000698633.1:n.163-28del
ENST00000698636.1:n.287-28del
ENST00000425368.7:c.65-28del MANE Select	ENSP00000416561.2:n.65-28del
ENST00000425368.6:c.65-28del	ENSP00000416561.2:n.65-28del
ENST00000452035.6:n.65-28del
ENST00000456570.5:c.1571-28del	ENSP00000410815.1:n.1571-28del
ENST00000460718.5:c.64+60del	ENSP00000417793.1:n.64+60del
ENST00000472581.1:n.312-28del
ENST00000475617.5:c.65-28del	ENSP00000420090.1:n.65-28del
ENST00000477310.1:c.1352-662del	ENSP00000418996.1:n.1352-662del
NM_001710.5:c.65-28del , LRG_136t1:c.65-28del	NP_001701.2:n.65-28del
NM_001710.6:c.65-28del MANE Select	NP_001701.2:n.65-28del