Canonical Allele Identifier: CA2678074516

Gene: CFB

Linked Data

• gnomAD v4: 6-31951119-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951120_31951121del , CM000668.2:g.31951120_31951121del	GRCh38
NC_000006.11:g.31918897_31918898del , CM000668.1:g.31918897_31918898del	GRCh37
NC_000006.10:g.32026876_32026877del	NCBI36
NG_008191.1:g.10177_10178del , LRG_136:g.10177_10178del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2343-77_2343-76del
ENST00000483004.2:c.1640-24_1640-23del	ENSP00000419887.2:n.1640-24_1640-23del
ENST00000698628.1:c.1625-24_1625-23del	ENSP00000513848.1:n.1625-24_1625-23del
ENST00000698629.1:n.2128-77_2128-76del
ENST00000698630.1:n.2572-24_2572-23del
ENST00000698631.1:n.2573-24_2573-23del
ENST00000698632.1:n.3637_3638del
ENST00000698633.1:n.3527_3528del
ENST00000425368.7:c.1856-24_1856-23del MANE Select	ENSP00000416561.2:n.1856-24_1856-23del
ENST00000425368.6:c.1856-24_1856-23del	ENSP00000416561.2:n.1856-24_1856-23del
ENST00000456570.5:c.3362-24_3362-23del	ENSP00000410815.1:n.3362-24_3362-23del
ENST00000467360.1:n.982-24_982-23del
ENST00000477310.1:c.2909-24_2909-23del	ENSP00000418996.1:n.2909-24_2909-23del
ENST00000482312.1:n.247_248del
ENST00000483004.1:c.478-24_478-23del
NM_001710.5:c.1856-24_1856-23del , LRG_136t1:c.1856-24_1856-23del	NP_001701.2:n.1856-24_1856-23del
NM_001710.6:c.1856-24_1856-23del MANE Select	NP_001701.2:n.1856-24_1856-23del