Canonical Allele Identifier: CA2678074302

Gene: CFB

Linked Data

• gnomAD v4: 6-31950860-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950860C>T , CM000668.2:g.31950860C>T	GRCh38
NC_000006.11:g.31918637C>T , CM000668.1:g.31918637C>T	GRCh37
NC_000006.10:g.32026616C>T	NCBI36
NG_008191.1:g.9917C>T , LRG_136:g.9917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2258C>T
ENST00000483004.2:c.1563-8C>T	ENSP00000419887.2:n.1563-8C>T
ENST00000698628.1:c.1625-284C>T	ENSP00000513848.1:n.1625-284C>T
ENST00000698629.1:n.2043C>T
ENST00000698630.1:n.2495-8C>T
ENST00000698631.1:n.2496-8C>T
ENST00000698632.1:n.3377C>T
ENST00000698633.1:n.3267C>T
ENST00000425368.7:c.1779-8C>T MANE Select	ENSP00000416561.2:n.1779-8C>T
ENST00000425368.6:c.1779-8C>T	ENSP00000416561.2:n.1779-8C>T
ENST00000456570.5:c.3285-8C>T	ENSP00000410815.1:n.3285-8C>T
ENST00000467360.1:n.905-8C>T
ENST00000477310.1:c.2832-8C>T	ENSP00000418996.1:n.2832-8C>T
ENST00000483004.1:c.401-8C>T
NM_001710.5:c.1779-8C>T , LRG_136t1:c.1779-8C>T	NP_001701.2:n.1779-8C>T
NM_001710.6:c.1779-8C>T MANE Select	NP_001701.2:n.1779-8C>T