Canonical Allele Identifier: CA2678075001

Gene: CFB

Linked Data

• gnomAD v4: 6-31951750-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951750G>T , CM000668.2:g.31951750G>T	GRCh38
NC_000006.11:g.31919527G>T , CM000668.1:g.31919527G>T	GRCh37
NC_000006.10:g.32027506G>T	NCBI36
NG_008191.1:g.10807G>T , LRG_136:g.10807G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2574-125G>T
ENST00000483004.2:c.1924-125G>T	ENSP00000419887.2:n.1924-125G>T
ENST00000698628.1:c.1909-125G>T	ENSP00000513848.1:n.1909-125G>T
ENST00000698629.1:n.2359-125G>T
ENST00000698630.1:n.2856-125G>T
ENST00000698631.1:n.2857-125G>T
ENST00000698632.1:n.3945-125G>T
ENST00000698633.1:n.3835-125G>T
ENST00000425368.7:c.2140-125G>T MANE Select	ENSP00000416561.2:n.2140-125G>T
ENST00000425368.6:c.2140-125G>T	ENSP00000416561.2:n.2140-125G>T
ENST00000456570.5:c.3646-125G>T	ENSP00000410815.1:n.3646-125G>T
ENST00000477310.1:c.3193-125G>T	ENSP00000418996.1:n.3193-125G>T
ENST00000482312.1:n.555-125G>T
ENST00000483004.1:c.762-125G>T
ENST00000498317.1:c.255G>T
NM_001710.5:c.2140-125G>T , LRG_136t1:c.2140-125G>T	NP_001701.2:n.2140-125G>T
NM_001710.6:c.2140-125G>T MANE Select	NP_001701.2:n.2140-125G>T