Canonical Allele Identifier: CA1087492749

Gene: CFB

Linked Data

• dbSNP Id: rs1771716569
• gnomAD v3: 6-31950822-G-C
• gnomAD v4: 6-31950822-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950822G>C , CM000668.2:g.31950822G>C	GRCh38
NC_000006.11:g.31918599G>C , CM000668.1:g.31918599G>C	GRCh37
NC_000006.10:g.32026578G>C	NCBI36
NG_008191.1:g.9879G>C , LRG_136:g.9879G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2220G>C
ENST00000483004.2:c.1563-46G>C	ENSP00000419887.2:n.1563-46G>C
ENST00000698628.1:c.1625-322G>C	ENSP00000513848.1:n.1625-322G>C
ENST00000698629.1:n.2005G>C
ENST00000698630.1:n.2495-46G>C
ENST00000698631.1:n.2496-46G>C
ENST00000698632.1:n.3339G>C
ENST00000698633.1:n.3229G>C
ENST00000425368.7:c.1779-46G>C MANE Select	ENSP00000416561.2:n.1779-46G>C
ENST00000425368.6:c.1779-46G>C	ENSP00000416561.2:n.1779-46G>C
ENST00000456570.5:c.3285-46G>C	ENSP00000410815.1:n.3285-46G>C
ENST00000467360.1:n.905-46G>C
ENST00000477310.1:c.2832-46G>C	ENSP00000418996.1:n.2832-46G>C
ENST00000483004.1:c.401-46G>C
NM_001710.5:c.1779-46G>C , LRG_136t1:c.1779-46G>C	NP_001701.2:n.1779-46G>C
NM_001710.6:c.1779-46G>C MANE Select	NP_001701.2:n.1779-46G>C