Canonical Allele Identifier: CA566693463

Gene: CFB

Linked Data

• dbSNP Id: rs1201786599
• gnomAD v2: 6-31918879-CAGT-C
• gnomAD v3: 6-31951102-CAGT-C
• gnomAD v4: 6-31951102-CAGT-C
• MyVariant Identifiers: chr6:g.31918880_31918882del (hg19) ; chr6:g.31951103_31951105del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951103_31951105del , CM000668.2:g.31951103_31951105del	GRCh38
NC_000006.11:g.31918880_31918882del , CM000668.1:g.31918880_31918882del	GRCh37
NC_000006.10:g.32026859_32026861del	NCBI36
NG_008191.1:g.10160_10162del , LRG_136:g.10160_10162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2343-94_2343-92del
ENST00000483004.2:c.1640-41_1640-39del	ENSP00000419887.2:n.1640-41_1640-39del
ENST00000698628.1:c.1625-41_1625-39del	ENSP00000513848.1:n.1625-41_1625-39del
ENST00000698629.1:n.2128-94_2128-92del
ENST00000698630.1:n.2572-41_2572-39del
ENST00000698631.1:n.2573-41_2573-39del
ENST00000698632.1:n.3620_3622del
ENST00000698633.1:n.3510_3512del
ENST00000425368.7:c.1856-41_1856-39del MANE Select	ENSP00000416561.2:n.1856-41_1856-39del
ENST00000425368.6:c.1856-41_1856-39del	ENSP00000416561.2:n.1856-41_1856-39del
ENST00000456570.5:c.3362-41_3362-39del	ENSP00000410815.1:n.3362-41_3362-39del
ENST00000467360.1:n.982-41_982-39del
ENST00000477310.1:c.2909-41_2909-39del	ENSP00000418996.1:n.2909-41_2909-39del
ENST00000482312.1:n.230_232del
ENST00000483004.1:c.478-41_478-39del
NM_001710.5:c.1856-41_1856-39del , LRG_136t1:c.1856-41_1856-39del	NP_001701.2:n.1856-41_1856-39del
NM_001710.6:c.1856-41_1856-39del MANE Select	NP_001701.2:n.1856-41_1856-39del