Canonical Allele Identifier: CA381087707
Gene: FERMT3 HGNC NCBI

Linked Data

dbSNP Id: rs1448127884

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220530T>C , CM000673.2:g.64220530T>C GRCh38
NC_000011.9:g.63988002T>C , CM000673.1:g.63988002T>C GRCh37
NC_000011.8:g.63744578T>C NCBI36
NG_016360.1:g.18851T>C , LRG_180:g.18851T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1418T>C ENSP00000279227.5:p.Ile473Thr
ENST00000540554.2:n.2584T>C
ENST00000541252.2:c.866T>C ENSP00000438885.2:p.Ile289Thr
ENST00000541326.6:n.827T>C
ENST00000544997.6:c.1406T>C ENSP00000445778.2:p.Ile469Thr
ENST00000545896.2:c.95T>C ENSP00000440209.2:p.Ile32Thr
ENST00000546255.2:n.1710T>C
ENST00000698845.1:c.*601T>C ENSP00000513981.1:n.*601T>C
ENST00000698846.1:n.1652T>C
ENST00000698847.1:c.*811T>C ENSP00000513982.1:n.*811T>C
ENST00000698849.1:n.526T>C
ENST00000698850.1:n.1174T>C
ENST00000698852.1:c.1406T>C ENSP00000513984.1:p.Ile469Thr
ENST00000698853.1:c.*635T>C ENSP00000513985.1:n.*635T>C
ENST00000698854.1:c.*736T>C ENSP00000513986.1:n.*736T>C
ENST00000698855.1:n.3058T>C
ENST00000698856.1:n.2752T>C
ENST00000698859.1:n.1570T>C
ENST00000698860.1:c.1418T>C ENSP00000513988.1:p.Ile473Thr
ENST00000698861.1:c.1406T>C ENSP00000513989.1:p.Ile469Thr
ENST00000698862.1:c.*702T>C ENSP00000513990.1:n.*702T>C
ENST00000698863.1:c.1406T>C ENSP00000513991.1:p.Ile469Thr
ENST00000698864.1:n.1621T>C
ENST00000698865.1:c.1427T>C ENSP00000513992.1:p.Ile476Thr
ENST00000698866.1:c.*920T>C ENSP00000513993.1:n.*920T>C
ENST00000698867.1:n.5381T>C
ENST00000698868.1:c.1271T>C ENSP00000513994.1:p.Ile424Thr
ENST00000698869.1:c.1311+204T>C ENSP00000513995.1:n.1311+204T>C
ENST00000698870.1:c.1406T>C ENSP00000513996.1:p.Ile469Thr
ENST00000698871.1:n.1929T>C
ENST00000698872.1:c.*195T>C ENSP00000513997.1:n.*195T>C
ENST00000698873.1:c.*601T>C ENSP00000513998.1:n.*601T>C
ENST00000698874.1:c.866T>C ENSP00000513999.1:p.Ile289Thr
ENST00000698875.1:n.1266T>C
ENST00000698876.1:n.1454T>C
ENST00000698877.1:n.974T>C
ENST00000698878.1:c.1400T>C ENSP00000514000.1:p.Ile467Thr
ENST00000698880.1:c.1274T>C
ENST00000345728.10:c.1406T>C MANE Select ENSP00000339950.5:p.Ile469Thr
ENST00000279227.9:c.1418T>C ENSP00000279227.5:p.Ile473Thr
ENST00000345728.9:c.1406T>C ENSP00000339950.5:p.Ile469Thr
ENST00000541326.5:n.822T>C
ENST00000545896.1:c.94T>C ENSP00000440209.1:p.Ser32Pro
NM_031471.5:c.1406T>C NP_113659.3:p.Ile469Thr
NM_178443.2:c.1418T>C , LRG_180t1:c.1418T>C NP_848537.1:p.Ile473Thr
XM_011545294.1:c.1418T>C XP_011543596.1:p.Ile473Thr
XM_011545295.1:c.878T>C XP_011543597.1:p.Ile293Thr
XM_011545296.1:c.878T>C XP_011543598.1:p.Ile293Thr
XM_011545294.3:c.1418T>C XP_011543596.1:p.Ile473Thr
XM_011545295.2:c.878T>C XP_011543597.1:p.Ile293Thr
XM_017018398.2:c.1406T>C XP_016873887.1:p.Ile469Thr
XM_017018399.1:c.866T>C XP_016873888.1:p.Ile289Thr
NM_031471.6:c.1406T>C MANE Select NP_113659.3:p.Ile469Thr
NM_001382361.1:c.1406T>C NP_001369290.1:p.Ile469Thr
NM_001382362.1:c.1418T>C NP_001369291.1:p.Ile473Thr
NM_001382363.1:c.866T>C NP_001369292.1:p.Ile289Thr
NM_001382364.1:c.878T>C NP_001369293.1:p.Ile293Thr
NM_001382448.1:c.1406T>C NP_001369377.1:p.Ile469Thr
NM_178443.3:c.1418T>C NP_848537.1:p.Ile473Thr