Canonical Allele Identifier: CA1619378318

Gene: CFB

Linked Data

• dbSNP Id: rs1771683869

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950408G>C , CM000668.2:g.31950408G>C	GRCh38
NC_000006.11:g.31918185G>C , CM000668.1:g.31918185G>C	GRCh37
NC_000006.10:g.32026164G>C	NCBI36
NG_008191.1:g.9465G>C , LRG_136:g.9465G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1806G>C
ENST00000483004.2:c.1409-211G>C	ENSP00000419887.2:n.1409-211G>C
ENST00000698628.1:c.1624+5G>C	ENSP00000513848.1:n.1624+5G>C
ENST00000698629.1:n.1801+5G>C
ENST00000698630.1:n.2340+5G>C
ENST00000698631.1:n.2341+5G>C
ENST00000698632.1:n.2925G>C
ENST00000698633.1:n.2815G>C
ENST00000698636.1:n.1846+5G>C
ENST00000425368.7:c.1624+5G>C MANE Select	ENSP00000416561.2:n.1624+5G>C
ENST00000425368.6:c.1624+5G>C	ENSP00000416561.2:n.1624+5G>C
ENST00000452035.6:n.1629G>C
ENST00000456570.5:c.3130+5G>C	ENSP00000410815.1:n.3130+5G>C
ENST00000467360.1:n.540G>C
ENST00000477310.1:c.2677+5G>C	ENSP00000418996.1:n.2677+5G>C
ENST00000483004.1:c.247-211G>C
NM_001710.5:c.1624+5G>C , LRG_136t1:c.1624+5G>C	NP_001701.2:n.1624+5G>C
NM_001710.6:c.1624+5G>C MANE Select	NP_001701.2:n.1624+5G>C