Canonical Allele Identifier: CA1619379420
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951707C= , CM000668.2:g.31951707C= GRCh38
NC_000006.11:g.31919484C= , CM000668.1:g.31919484C= GRCh37
NC_000006.10:g.32027463C= NCBI36
NG_008191.1:g.10764C= , LRG_136:g.10764C=

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2573+103C=
ENST00000483004.2:c.1923+103C= ENSP00000419887.2:n.1923+103C=
ENST00000698628.1:c.1908+103C= ENSP00000513848.1:n.1908+103C=
ENST00000698629.1:n.2358+103C=
ENST00000698630.1:n.2855+103C=
ENST00000698631.1:n.2856+103C=
ENST00000698632.1:n.3944+103C=
ENST00000698633.1:n.3834+103C=
ENST00000425368.7:c.2139+103C= MANE Select ENSP00000416561.2:n.2139+103C=
ENST00000425368.6:c.2139+103C= ENSP00000416561.2:n.2139+103C=
ENST00000456570.5:c.3645+103C= ENSP00000410815.1:n.3645+103C=
ENST00000477310.1:c.3192+103C= ENSP00000418996.1:n.3192+103C=
ENST00000482312.1:n.554+103C=
ENST00000483004.1:c.761+103C=
ENST00000498317.1:c.212C=
NM_001710.5:c.2139+103C= , LRG_136t1:c.2139+103C= NP_001701.2:n.2139+103C=
NM_001710.6:c.2139+103C= MANE Select NP_001701.2:n.2139+103C=