Canonical Allele Identifier: CA2678071848

Gene: CFB

Linked Data

• gnomAD v4: 6-31946191-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946191A>C , CM000668.2:g.31946191A>C	GRCh38
NC_000006.11:g.31913968A>C , CM000668.1:g.31913968A>C	GRCh37
NC_000006.10:g.32021947A>C	NCBI36
NG_008191.1:g.5248A>C , LRG_136:g.5248A>C
NG_011730.1:g.23703A>C , LRG_26:g.23703A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.147A>C
ENST00000483004.2:c.-31A>C	ENSP00000419887.2:n.-31A>C
ENST00000497841.6:c.-31A>C	ENSP00000513847.1:n.-31A>C
ENST00000698628.1:c.-31A>C	ENSP00000513848.1:n.-31A>C
ENST00000698629.1:n.147A>C
ENST00000698630.1:n.131A>C
ENST00000698631.1:n.126A>C
ENST00000698632.1:n.98A>C
ENST00000698633.1:n.68A>C
ENST00000698636.1:n.192A>C
ENST00000425368.7:c.-31A>C MANE Select	ENSP00000416561.2:n.-31A>C
ENST00000425368.6:c.-31A>C	ENSP00000416561.2:n.-31A>C
ENST00000456570.5:c.1571-182A>C	ENSP00000410815.1:n.1571-182A>C
ENST00000460718.5:c.-31A>C	ENSP00000417793.1:n.-31A>C
ENST00000472581.1:n.217A>C
ENST00000475617.5:c.-31A>C	ENSP00000420090.1:n.-31A>C
ENST00000477310.1:c.1352-816A>C	ENSP00000418996.1:n.1352-816A>C
NM_001710.5:c.-31A>C , LRG_136t1:c.-31A>C	NP_001701.2:n.-31A>C
NM_001710.6:c.-31A>C MANE Select	NP_001701.2:n.-31A>C