Canonical Allele Identifier: CA381090040
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64223163T>C , CM000673.2:g.64223163T>C GRCh38
NC_000011.9:g.63990635T>C , CM000673.1:g.63990635T>C GRCh37
NC_000011.8:g.63747211T>C NCBI36
NG_016360.1:g.21484T>C , LRG_180:g.21484T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1798T>C ENSP00000279227.5:p.Trp600Arg
ENST00000540554.2:n.3310T>C
ENST00000541252.2:c.1246T>C ENSP00000438885.2:p.Trp416Arg
ENST00000544997.6:c.1786T>C ENSP00000445778.2:p.Trp596Arg
ENST00000545896.2:c.350T>C ENSP00000440209.2:p.Val117Ala
ENST00000546255.2:n.2090T>C
ENST00000698845.1:c.*981T>C ENSP00000513981.1:n.*981T>C
ENST00000698846.1:n.2032T>C
ENST00000698847.1:c.*1191T>C ENSP00000513982.1:n.*1191T>C
ENST00000698850.1:n.3807T>C
ENST00000698852.1:c.1786T>C ENSP00000513984.1:p.Trp596Arg
ENST00000698853.1:c.*1015T>C ENSP00000513985.1:n.*1015T>C
ENST00000698854.1:c.*1116T>C ENSP00000513986.1:n.*1116T>C
ENST00000698855.1:n.3438T>C
ENST00000698856.1:n.3132T>C
ENST00000698859.1:n.2296T>C
ENST00000698860.1:c.1798T>C ENSP00000513988.1:p.Trp600Arg
ENST00000698861.1:c.1786T>C ENSP00000513989.1:p.Trp596Arg
ENST00000698862.1:c.*1082T>C ENSP00000513990.1:n.*1082T>C
ENST00000698863.1:c.1786T>C ENSP00000513991.1:p.Trp596Arg
ENST00000698864.1:n.2347T>C
ENST00000698865.1:c.1807T>C ENSP00000513992.1:p.Trp603Arg
ENST00000698866.1:c.*1574T>C ENSP00000513993.1:n.*1574T>C
ENST00000698867.1:n.5761T>C
ENST00000698868.1:c.1651T>C ENSP00000513994.1:p.Trp551Arg
ENST00000698869.1:c.1552T>C ENSP00000513995.1:p.Trp518Arg
ENST00000698870.1:c.1786T>C ENSP00000513996.1:p.Trp596Arg
ENST00000698871.1:n.2309T>C
ENST00000698872.1:c.*575T>C ENSP00000513997.1:n.*575T>C
ENST00000698873.1:c.*981T>C ENSP00000513998.1:n.*981T>C
ENST00000698874.1:c.1246T>C ENSP00000513999.1:p.Trp416Arg
ENST00000698875.1:n.1646T>C
ENST00000698876.1:n.1834T>C
ENST00000698877.1:n.1354T>C
ENST00000698878.1:c.1780T>C ENSP00000514000.1:p.Trp594Arg
ENST00000698880.1:c.1654T>C
ENST00000345728.10:c.1786T>C MANE Select ENSP00000339950.5:p.Trp596Arg
ENST00000279227.9:c.1798T>C ENSP00000279227.5:p.Trp600Arg
ENST00000345728.9:c.1786T>C ENSP00000339950.5:p.Trp596Arg
ENST00000545896.1:c.349T>C ENSP00000440209.1:p.Trp117Arg
NM_031471.5:c.1786T>C NP_113659.3:p.Trp596Arg
NM_178443.2:c.1798T>C , LRG_180t1:c.1798T>C NP_848537.1:p.Trp600Arg
XM_011545294.1:c.1798T>C XP_011543596.1:p.Trp600Arg
XM_011545295.1:c.1258T>C XP_011543597.1:p.Trp420Arg
XM_011545296.1:c.1258T>C XP_011543598.1:p.Trp420Arg
XM_011545294.3:c.1798T>C XP_011543596.1:p.Trp600Arg
XM_011545295.2:c.1258T>C XP_011543597.1:p.Trp420Arg
XM_017018398.2:c.1786T>C XP_016873887.1:p.Trp596Arg
XM_017018399.1:c.1246T>C XP_016873888.1:p.Trp416Arg
NM_031471.6:c.1786T>C MANE Select NP_113659.3:p.Trp596Arg
NM_001382361.1:c.1786T>C NP_001369290.1:p.Trp596Arg
NM_001382362.1:c.1798T>C NP_001369291.1:p.Trp600Arg
NM_001382363.1:c.1246T>C NP_001369292.1:p.Trp416Arg
NM_001382364.1:c.1258T>C NP_001369293.1:p.Trp420Arg
NM_001382448.1:c.1786T>C NP_001369377.1:p.Trp596Arg
NM_178443.3:c.1798T>C NP_848537.1:p.Trp600Arg