Canonical Allele Identifier: CA823923134

Gene: CFB

Linked Data

• dbSNP Id: rs1398138970
• gnomAD v3: 6-31951077-AGT-A
• gnomAD v4: 6-31951077-AGT-A
• MyVariant Identifiers: chr6:g.31918855_31918856del (hg19) ; chr6:g.31951078_31951079del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951079_31951080del , CM000668.2:g.31951079_31951080del	GRCh38
NC_000006.11:g.31918856_31918857del , CM000668.1:g.31918856_31918857del	GRCh37
NC_000006.10:g.32026835_32026836del	NCBI36
NG_008191.1:g.10136_10137del , LRG_136:g.10136_10137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2343-118_2343-117del
ENST00000483004.2:c.1640-65_1640-64del	ENSP00000419887.2:n.1640-65_1640-64del
ENST00000698628.1:c.1625-65_1625-64del	ENSP00000513848.1:n.1625-65_1625-64del
ENST00000698629.1:n.2128-118_2128-117del
ENST00000698630.1:n.2572-65_2572-64del
ENST00000698631.1:n.2573-65_2573-64del
ENST00000698632.1:n.3596_3597del
ENST00000698633.1:n.3486_3487del
ENST00000425368.7:c.1856-65_1856-64del MANE Select	ENSP00000416561.2:n.1856-65_1856-64del
ENST00000425368.6:c.1856-65_1856-64del	ENSP00000416561.2:n.1856-65_1856-64del
ENST00000456570.5:c.3362-65_3362-64del	ENSP00000410815.1:n.3362-65_3362-64del
ENST00000467360.1:n.982-65_982-64del
ENST00000477310.1:c.2909-65_2909-64del	ENSP00000418996.1:n.2909-65_2909-64del
ENST00000482312.1:n.206_207del
ENST00000483004.1:c.478-65_478-64del
NM_001710.5:c.1856-65_1856-64del , LRG_136t1:c.1856-65_1856-64del	NP_001701.2:n.1856-65_1856-64del
NM_001710.6:c.1856-65_1856-64del MANE Select	NP_001701.2:n.1856-65_1856-64del