Canonical Allele Identifier: CA381090125
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64223177G>C , CM000673.2:g.64223177G>C GRCh38
NC_000011.9:g.63990649G>C , CM000673.1:g.63990649G>C GRCh37
NC_000011.8:g.63747225G>C NCBI36
NG_016360.1:g.21498G>C , LRG_180:g.21498G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1812G>C ENSP00000279227.5:p.Trp604Cys
ENST00000540554.2:n.3324G>C
ENST00000541252.2:c.1260G>C ENSP00000438885.2:p.Trp420Cys
ENST00000544997.6:c.1800G>C ENSP00000445778.2:p.Trp600Cys
ENST00000545896.2:c.364G>C ENSP00000440209.2:p.Gly122Arg
ENST00000546255.2:n.2104G>C
ENST00000698845.1:c.*995G>C ENSP00000513981.1:n.*995G>C
ENST00000698846.1:n.2046G>C
ENST00000698847.1:c.*1205G>C ENSP00000513982.1:n.*1205G>C
ENST00000698850.1:n.3821G>C
ENST00000698852.1:c.1800G>C ENSP00000513984.1:p.Trp600Cys
ENST00000698853.1:c.*1029G>C ENSP00000513985.1:n.*1029G>C
ENST00000698854.1:c.*1130G>C ENSP00000513986.1:n.*1130G>C
ENST00000698855.1:n.3452G>C
ENST00000698856.1:n.3146G>C
ENST00000698859.1:n.2310G>C
ENST00000698860.1:c.1812G>C ENSP00000513988.1:p.Trp604Cys
ENST00000698861.1:c.1800G>C ENSP00000513989.1:p.Trp600Cys
ENST00000698862.1:c.*1096G>C ENSP00000513990.1:n.*1096G>C
ENST00000698863.1:c.1800G>C ENSP00000513991.1:p.Trp600Cys
ENST00000698864.1:n.2361G>C
ENST00000698865.1:c.1821G>C ENSP00000513992.1:p.Trp607Cys
ENST00000698866.1:c.*1588G>C ENSP00000513993.1:n.*1588G>C
ENST00000698867.1:n.5775G>C
ENST00000698868.1:c.1665G>C ENSP00000513994.1:p.Trp555Cys
ENST00000698869.1:c.1566G>C ENSP00000513995.1:p.Trp522Cys
ENST00000698870.1:c.1800G>C ENSP00000513996.1:p.Trp600Cys
ENST00000698871.1:n.2323G>C
ENST00000698872.1:c.*589G>C ENSP00000513997.1:n.*589G>C
ENST00000698873.1:c.*995G>C ENSP00000513998.1:n.*995G>C
ENST00000698874.1:c.1260G>C ENSP00000513999.1:p.Trp420Cys
ENST00000698875.1:n.1660G>C
ENST00000698876.1:n.1848G>C
ENST00000698877.1:n.1368G>C
ENST00000698878.1:c.1794G>C ENSP00000514000.1:p.Trp598Cys
ENST00000698880.1:c.1668G>C
ENST00000345728.10:c.1800G>C MANE Select ENSP00000339950.5:p.Trp600Cys
ENST00000279227.9:c.1812G>C ENSP00000279227.5:p.Trp604Cys
ENST00000345728.9:c.1800G>C ENSP00000339950.5:p.Trp600Cys
ENST00000545896.1:c.363G>C ENSP00000440209.1:p.Trp121Cys
NM_031471.5:c.1800G>C NP_113659.3:p.Trp600Cys
NM_178443.2:c.1812G>C , LRG_180t1:c.1812G>C NP_848537.1:p.Trp604Cys
XM_011545294.1:c.1812G>C XP_011543596.1:p.Trp604Cys
XM_011545295.1:c.1272G>C XP_011543597.1:p.Trp424Cys
XM_011545296.1:c.1272G>C XP_011543598.1:p.Trp424Cys
XM_011545294.3:c.1812G>C XP_011543596.1:p.Trp604Cys
XM_011545295.2:c.1272G>C XP_011543597.1:p.Trp424Cys
XM_017018398.2:c.1800G>C XP_016873887.1:p.Trp600Cys
XM_017018399.1:c.1260G>C XP_016873888.1:p.Trp420Cys
NM_031471.6:c.1800G>C MANE Select NP_113659.3:p.Trp600Cys
NM_001382361.1:c.1800G>C NP_001369290.1:p.Trp600Cys
NM_001382362.1:c.1812G>C NP_001369291.1:p.Trp604Cys
NM_001382363.1:c.1260G>C NP_001369292.1:p.Trp420Cys
NM_001382364.1:c.1272G>C NP_001369293.1:p.Trp424Cys
NM_001382448.1:c.1800G>C NP_001369377.1:p.Trp600Cys
NM_178443.3:c.1812G>C NP_848537.1:p.Trp604Cys