Canonical Allele Identifier: CA2678073814

Gene: CFB

Linked Data

• gnomAD v4: 6-31950534-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950534G>C , CM000668.2:g.31950534G>C	GRCh38
NC_000006.11:g.31918311G>C , CM000668.1:g.31918311G>C	GRCh37
NC_000006.10:g.32026290G>C	NCBI36
NG_008191.1:g.9591G>C , LRG_136:g.9591G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1932G>C
ENST00000483004.2:c.1409-85G>C	ENSP00000419887.2:n.1409-85G>C
ENST00000698628.1:c.1624+131G>C	ENSP00000513848.1:n.1624+131G>C
ENST00000698629.1:n.1802-85G>C
ENST00000698630.1:n.2341-85G>C
ENST00000698631.1:n.2342-85G>C
ENST00000698632.1:n.3051G>C
ENST00000698633.1:n.2941G>C
ENST00000698636.1:n.1847-85G>C
ENST00000425368.7:c.1625-85G>C MANE Select	ENSP00000416561.2:n.1625-85G>C
ENST00000425368.6:c.1625-85G>C	ENSP00000416561.2:n.1625-85G>C
ENST00000452035.6:n.1755G>C
ENST00000456570.5:c.3131-85G>C	ENSP00000410815.1:n.3131-85G>C
ENST00000467360.1:n.666G>C
ENST00000477310.1:c.2678-85G>C	ENSP00000418996.1:n.2678-85G>C
ENST00000483004.1:c.247-85G>C
NM_001710.5:c.1625-85G>C , LRG_136t1:c.1625-85G>C	NP_001701.2:n.1625-85G>C
NM_001710.6:c.1625-85G>C MANE Select	NP_001701.2:n.1625-85G>C