Canonical Allele Identifier: CA2678074414

Gene: CFB

Linked Data

• gnomAD v4: 6-31950955-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950955C>T , CM000668.2:g.31950955C>T	GRCh38
NC_000006.11:g.31918732C>T , CM000668.1:g.31918732C>T	GRCh37
NC_000006.10:g.32026711C>T	NCBI36
NG_008191.1:g.10012C>T , LRG_136:g.10012C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342+11C>T
ENST00000483004.2:c.1639+11C>T	ENSP00000419887.2:n.1639+11C>T
ENST00000698628.1:c.1625-189C>T	ENSP00000513848.1:n.1625-189C>T
ENST00000698629.1:n.2127+11C>T
ENST00000698630.1:n.2571+11C>T
ENST00000698631.1:n.2572+11C>T
ENST00000698632.1:n.3472C>T
ENST00000698633.1:n.3362C>T
ENST00000425368.7:c.1855+11C>T MANE Select	ENSP00000416561.2:n.1855+11C>T
ENST00000425368.6:c.1855+11C>T	ENSP00000416561.2:n.1855+11C>T
ENST00000456570.5:c.3361+11C>T	ENSP00000410815.1:n.3361+11C>T
ENST00000467360.1:n.981+11C>T
ENST00000477310.1:c.2908+11C>T	ENSP00000418996.1:n.2908+11C>T
ENST00000482312.1:n.82C>T
ENST00000483004.1:c.477+11C>T
NM_001710.5:c.1855+11C>T , LRG_136t1:c.1855+11C>T	NP_001701.2:n.1855+11C>T
NM_001710.6:c.1855+11C>T MANE Select	NP_001701.2:n.1855+11C>T