Canonical Allele Identifier: CA363408988
Gene: CFB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950696G>T , CM000668.2:g.31950696G>T GRCh38
NC_000006.11:g.31918473G>T , CM000668.1:g.31918473G>T GRCh37
NC_000006.10:g.32026452G>T NCBI36
NG_008191.1:g.9753G>T , LRG_136:g.9753G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000452035.7:n.2094G>T
ENST00000483004.2:c.1486G>T ENSP00000419887.2:p.Gly496Ter
ENST00000698628.1:c.1624+293G>T ENSP00000513848.1:n.1624+293G>T
ENST00000698629.1:n.1879G>T
ENST00000698630.1:n.2418G>T
ENST00000698631.1:n.2419G>T
ENST00000698632.1:n.3213G>T
ENST00000698633.1:n.3103G>T
ENST00000698636.1:n.1924G>T
ENST00000425368.7:c.1702G>T MANE Select ENSP00000416561.2:p.Gly568Ter
ENST00000425368.6:c.1702G>T ENSP00000416561.2:p.Gly568Ter
ENST00000456570.5:c.3208G>T ENSP00000410815.1:p.Gly1070Ter
ENST00000467360.1:n.828G>T
ENST00000477310.1:c.2755G>T ENSP00000418996.1:p.Gly919Ter
ENST00000483004.1:c.324G>T
NM_001710.5:c.1702G>T , LRG_136t1:c.1702G>T NP_001701.2:p.Gly568Ter
NM_001710.6:c.1702G>T MANE Select NP_001701.2:p.Gly568Ter