Canonical Allele Identifier: CA2678072867

Gene: CFB

Linked Data

• gnomAD v4: 6-31946752-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946752G>T , CM000668.2:g.31946752G>T	GRCh38
NC_000006.11:g.31914529G>T , CM000668.1:g.31914529G>T	GRCh37
NC_000006.10:g.32022508G>T	NCBI36
NG_008191.1:g.5809G>T , LRG_136:g.5809G>T
NG_011730.1:g.24264G>T , LRG_26:g.24264G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.475+146G>T
ENST00000483004.2:c.298+146G>T	ENSP00000419887.2:n.298+146G>T
ENST00000497841.6:c.298+146G>T	ENSP00000513847.1:n.298+146G>T
ENST00000698628.1:c.298+146G>T	ENSP00000513848.1:n.298+146G>T
ENST00000698629.1:n.475+146G>T
ENST00000698630.1:n.605G>T
ENST00000698631.1:n.600G>T
ENST00000698632.1:n.572G>T
ENST00000698633.1:n.542G>T
ENST00000698636.1:n.520+146G>T
ENST00000425368.7:c.298+146G>T MANE Select	ENSP00000416561.2:n.298+146G>T
ENST00000425368.6:c.298+146G>T	ENSP00000416561.2:n.298+146G>T
ENST00000452035.6:n.298+146G>T
ENST00000456570.5:c.1804+146G>T	ENSP00000410815.1:n.1804+146G>T
ENST00000460718.5:c.185+146G>T	ENSP00000417793.1:n.185+146G>T
ENST00000472581.1:n.691G>T
ENST00000475617.5:c.298+146G>T	ENSP00000420090.1:n.298+146G>T
ENST00000477310.1:c.1352-255G>T	ENSP00000418996.1:n.1352-255G>T
NM_001710.5:c.298+146G>T , LRG_136t1:c.298+146G>T	NP_001701.2:n.298+146G>T
NM_001710.6:c.298+146G>T MANE Select	NP_001701.2:n.298+146G>T