Canonical Allele Identifier: CA363409820
Gene: CFB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950897C>T , CM000668.2:g.31950897C>T GRCh38
NC_000006.11:g.31918674C>T , CM000668.1:g.31918674C>T GRCh37
NC_000006.10:g.32026653C>T NCBI36
NG_008191.1:g.9954C>T , LRG_136:g.9954C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2295C>T
ENST00000483004.2:c.1592C>T ENSP00000419887.2:p.Thr531Ile
ENST00000698628.1:c.1625-247C>T ENSP00000513848.1:n.1625-247C>T
ENST00000698629.1:n.2080C>T
ENST00000698630.1:n.2524C>T
ENST00000698631.1:n.2525C>T
ENST00000698632.1:n.3414C>T
ENST00000698633.1:n.3304C>T
ENST00000425368.7:c.1808C>T MANE Select ENSP00000416561.2:p.Thr603Ile
ENST00000425368.6:c.1808C>T ENSP00000416561.2:p.Thr603Ile
ENST00000456570.5:c.3314C>T ENSP00000410815.1:p.Thr1105Ile
ENST00000467360.1:n.934C>T
ENST00000477310.1:c.2861C>T ENSP00000418996.1:p.Thr954Ile
ENST00000482312.1:n.24C>T
ENST00000483004.1:c.430C>T
NM_001710.5:c.1808C>T , LRG_136t1:c.1808C>T NP_001701.2:p.Thr603Ile
NM_001710.6:c.1808C>T MANE Select NP_001701.2:p.Thr603Ile