Canonical Allele Identifier: CA363409116
Gene: CFB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31950720G>T , CM000668.2:g.31950720G>T GRCh38
NC_000006.11:g.31918497G>T , CM000668.1:g.31918497G>T GRCh37
NC_000006.10:g.32026476G>T NCBI36
NG_008191.1:g.9777G>T , LRG_136:g.9777G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.2118G>T
ENST00000483004.2:c.1510G>T ENSP00000419887.2:p.Asp504Tyr
ENST00000698628.1:c.1624+317G>T ENSP00000513848.1:n.1624+317G>T
ENST00000698629.1:n.1903G>T
ENST00000698630.1:n.2442G>T
ENST00000698631.1:n.2443G>T
ENST00000698632.1:n.3237G>T
ENST00000698633.1:n.3127G>T
ENST00000698636.1:n.1948G>T
ENST00000425368.7:c.1726G>T MANE Select ENSP00000416561.2:p.Asp576Tyr
ENST00000425368.6:c.1726G>T ENSP00000416561.2:p.Asp576Tyr
ENST00000456570.5:c.3232G>T ENSP00000410815.1:p.Asp1078Tyr
ENST00000467360.1:n.852G>T
ENST00000477310.1:c.2779G>T ENSP00000418996.1:p.Asp927Tyr
ENST00000483004.1:c.348G>T
NM_001710.5:c.1726G>T , LRG_136t1:c.1726G>T NP_001701.2:p.Asp576Tyr
NM_001710.6:c.1726G>T MANE Select NP_001701.2:p.Asp576Tyr