Canonical Allele Identifier: CA1619378858

Gene: CFB

Linked Data

• dbSNP Id: rs1562633057
• gnomAD v4: 6-31951053-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951053G>C , CM000668.2:g.31951053G>C	GRCh38
NC_000006.11:g.31918830G>C , CM000668.1:g.31918830G>C	GRCh37
NC_000006.10:g.32026809G>C	NCBI36
NG_008191.1:g.10110G>C , LRG_136:g.10110G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342+109G>C
ENST00000483004.2:c.1640-91G>C	ENSP00000419887.2:n.1640-91G>C
ENST00000698628.1:c.1625-91G>C	ENSP00000513848.1:n.1625-91G>C
ENST00000698629.1:n.2127+109G>C
ENST00000698630.1:n.2572-91G>C
ENST00000698631.1:n.2573-91G>C
ENST00000698632.1:n.3570G>C
ENST00000698633.1:n.3460G>C
ENST00000425368.7:c.1856-91G>C MANE Select	ENSP00000416561.2:n.1856-91G>C
ENST00000425368.6:c.1856-91G>C	ENSP00000416561.2:n.1856-91G>C
ENST00000456570.5:c.3362-91G>C	ENSP00000410815.1:n.3362-91G>C
ENST00000467360.1:n.982-91G>C
ENST00000477310.1:c.2909-91G>C	ENSP00000418996.1:n.2909-91G>C
ENST00000482312.1:n.180G>C
ENST00000483004.1:c.478-91G>C
NM_001710.5:c.1856-91G>C , LRG_136t1:c.1856-91G>C	NP_001701.2:n.1856-91G>C
NM_001710.6:c.1856-91G>C MANE Select	NP_001701.2:n.1856-91G>C