Canonical Allele Identifier: CA2770524624

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950823G>T , CM000668.2:g.31950823G>T	GRCh38
NC_000006.11:g.31918600G>T , CM000668.1:g.31918600G>T	GRCh37
NC_000006.10:g.32026579G>T	NCBI36
NG_008191.1:g.9880G>T , LRG_136:g.9880G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2221G>T
ENST00000483004.2:c.1563-45G>T	ENSP00000419887.2:n.1563-45G>T
ENST00000698628.1:c.1625-321G>T	ENSP00000513848.1:n.1625-321G>T
ENST00000698629.1:n.2006G>T
ENST00000698630.1:n.2495-45G>T
ENST00000698631.1:n.2496-45G>T
ENST00000698632.1:n.3340G>T
ENST00000698633.1:n.3230G>T
ENST00000425368.7:c.1779-45G>T MANE Select	ENSP00000416561.2:n.1779-45G>T
ENST00000425368.6:c.1779-45G>T	ENSP00000416561.2:n.1779-45G>T
ENST00000456570.5:c.3285-45G>T	ENSP00000410815.1:n.3285-45G>T
ENST00000467360.1:n.905-45G>T
ENST00000477310.1:c.2832-45G>T	ENSP00000418996.1:n.2832-45G>T
ENST00000483004.1:c.401-45G>T
NM_001710.5:c.1779-45G>T , LRG_136t1:c.1779-45G>T	NP_001701.2:n.1779-45G>T
NM_001710.6:c.1779-45G>T MANE Select	NP_001701.2:n.1779-45G>T