Canonical Allele Identifier: CA1619379364
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31951640G= , CM000668.2:g.31951640G= GRCh38
NC_000006.11:g.31919417G= , CM000668.1:g.31919417G= GRCh37
NC_000006.10:g.32027396G= NCBI36
NG_008191.1:g.10697G= , LRG_136:g.10697G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2573+36G=
ENST00000483004.2:c.1923+36G= ENSP00000419887.2:n.1923+36G=
ENST00000698628.1:c.1908+36G= ENSP00000513848.1:n.1908+36G=
ENST00000698629.1:n.2358+36G=
ENST00000698630.1:n.2855+36G=
ENST00000698631.1:n.2856+36G=
ENST00000698632.1:n.3944+36G=
ENST00000698633.1:n.3834+36G=
ENST00000425368.7:c.2139+36G= MANE Select ENSP00000416561.2:n.2139+36G=
ENST00000425368.6:c.2139+36G= ENSP00000416561.2:n.2139+36G=
ENST00000456570.5:c.3645+36G= ENSP00000410815.1:n.3645+36G=
ENST00000477310.1:c.3192+36G= ENSP00000418996.1:n.3192+36G=
ENST00000482312.1:n.554+36G=
ENST00000483004.1:c.761+36G=
ENST00000498317.1:c.145G=
NM_001710.5:c.2139+36G= , LRG_136t1:c.2139+36G= NP_001701.2:n.2139+36G=
NM_001710.6:c.2139+36G= MANE Select NP_001701.2:n.2139+36G=