Canonical Allele Identifier: CA1619378839

Gene: CFB

Linked Data

• dbSNP Id: rs141485126
• gnomAD v4: 6-31951022-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951022G>C , CM000668.2:g.31951022G>C	GRCh38
NC_000006.11:g.31918799G>C , CM000668.1:g.31918799G>C	GRCh37
NC_000006.10:g.32026778G>C	NCBI36
NG_008191.1:g.10079G>C , LRG_136:g.10079G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342+78G>C
ENST00000483004.2:c.1639+78G>C	ENSP00000419887.2:n.1639+78G>C
ENST00000698628.1:c.1625-122G>C	ENSP00000513848.1:n.1625-122G>C
ENST00000698629.1:n.2127+78G>C
ENST00000698630.1:n.2571+78G>C
ENST00000698631.1:n.2572+78G>C
ENST00000698632.1:n.3539G>C
ENST00000698633.1:n.3429G>C
ENST00000425368.7:c.1855+78G>C MANE Select	ENSP00000416561.2:n.1855+78G>C
ENST00000425368.6:c.1855+78G>C	ENSP00000416561.2:n.1855+78G>C
ENST00000456570.5:c.3361+78G>C	ENSP00000410815.1:n.3361+78G>C
ENST00000467360.1:n.981+78G>C
ENST00000477310.1:c.2908+78G>C	ENSP00000418996.1:n.2908+78G>C
ENST00000482312.1:n.149G>C
ENST00000483004.1:c.477+78G>C
NM_001710.5:c.1855+78G>C , LRG_136t1:c.1855+78G>C	NP_001701.2:n.1855+78G>C
NM_001710.6:c.1855+78G>C MANE Select	NP_001701.2:n.1855+78G>C