Canonical Allele Identifier: CA1619378824
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950995G= , CM000668.2:g.31950995G= GRCh38
NC_000006.11:g.31918772G= , CM000668.1:g.31918772G= GRCh37
NC_000006.10:g.32026751G= NCBI36
NG_008191.1:g.10052G= , LRG_136:g.10052G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2342+51G=
ENST00000483004.2:c.1639+51G= ENSP00000419887.2:n.1639+51G=
ENST00000698628.1:c.1625-149G= ENSP00000513848.1:n.1625-149G=
ENST00000698629.1:n.2127+51G=
ENST00000698630.1:n.2571+51G=
ENST00000698631.1:n.2572+51G=
ENST00000698632.1:n.3512G=
ENST00000698633.1:n.3402G=
ENST00000425368.7:c.1855+51G= MANE Select ENSP00000416561.2:n.1855+51G=
ENST00000425368.6:c.1855+51G= ENSP00000416561.2:n.1855+51G=
ENST00000456570.5:c.3361+51G= ENSP00000410815.1:n.3361+51G=
ENST00000467360.1:n.981+51G=
ENST00000477310.1:c.2908+51G= ENSP00000418996.1:n.2908+51G=
ENST00000482312.1:n.122G=
ENST00000483004.1:c.477+51G=
NM_001710.5:c.1855+51G= , LRG_136t1:c.1855+51G= NP_001701.2:n.1855+51G=
NM_001710.6:c.1855+51G= MANE Select NP_001701.2:n.1855+51G=