Canonical Allele Identifier: CA1087493038

Gene: CFB

Linked Data

• dbSNP Id: rs1771784205
• gnomAD v3: 6-31951754-G-A
• gnomAD v4: 6-31951754-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951754G>A , CM000668.2:g.31951754G>A	GRCh38
NC_000006.11:g.31919531G>A , CM000668.1:g.31919531G>A	GRCh37
NC_000006.10:g.32027510G>A	NCBI36
NG_008191.1:g.10811G>A , LRG_136:g.10811G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2574-121G>A
ENST00000483004.2:c.1924-121G>A	ENSP00000419887.2:n.1924-121G>A
ENST00000698628.1:c.1909-121G>A	ENSP00000513848.1:n.1909-121G>A
ENST00000698629.1:n.2359-121G>A
ENST00000698630.1:n.2856-121G>A
ENST00000698631.1:n.2857-121G>A
ENST00000698632.1:n.3945-121G>A
ENST00000698633.1:n.3835-121G>A
ENST00000425368.7:c.2140-121G>A MANE Select	ENSP00000416561.2:n.2140-121G>A
ENST00000425368.6:c.2140-121G>A	ENSP00000416561.2:n.2140-121G>A
ENST00000456570.5:c.3646-121G>A	ENSP00000410815.1:n.3646-121G>A
ENST00000477310.1:c.3193-121G>A	ENSP00000418996.1:n.3193-121G>A
ENST00000482312.1:n.555-121G>A
ENST00000483004.1:c.762-121G>A
ENST00000498317.1:c.259G>A
NM_001710.5:c.2140-121G>A , LRG_136t1:c.2140-121G>A	NP_001701.2:n.2140-121G>A
NM_001710.6:c.2140-121G>A MANE Select	NP_001701.2:n.2140-121G>A