Canonical Allele Identifier: CA381087704
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220529A>T , CM000673.2:g.64220529A>T GRCh38
NC_000011.9:g.63988001A>T , CM000673.1:g.63988001A>T GRCh37
NC_000011.8:g.63744577A>T NCBI36
NG_016360.1:g.18850A>T , LRG_180:g.18850A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1417A>T ENSP00000279227.5:p.Ile473Phe
ENST00000540554.2:n.2583A>T
ENST00000541252.2:c.865A>T ENSP00000438885.2:p.Ile289Phe
ENST00000541326.6:n.826A>T
ENST00000544997.6:c.1405A>T ENSP00000445778.2:p.Ile469Phe
ENST00000545896.2:c.94A>T ENSP00000440209.2:p.Ile32Phe
ENST00000546255.2:n.1709A>T
ENST00000698845.1:c.*600A>T ENSP00000513981.1:n.*600A>T
ENST00000698846.1:n.1651A>T
ENST00000698847.1:c.*810A>T ENSP00000513982.1:n.*810A>T
ENST00000698849.1:n.525A>T
ENST00000698850.1:n.1173A>T
ENST00000698852.1:c.1405A>T ENSP00000513984.1:p.Ile469Phe
ENST00000698853.1:c.*634A>T ENSP00000513985.1:n.*634A>T
ENST00000698854.1:c.*735A>T ENSP00000513986.1:n.*735A>T
ENST00000698855.1:n.3057A>T
ENST00000698856.1:n.2751A>T
ENST00000698859.1:n.1569A>T
ENST00000698860.1:c.1417A>T ENSP00000513988.1:p.Ile473Phe
ENST00000698861.1:c.1405A>T ENSP00000513989.1:p.Ile469Phe
ENST00000698862.1:c.*701A>T ENSP00000513990.1:n.*701A>T
ENST00000698863.1:c.1405A>T ENSP00000513991.1:p.Ile469Phe
ENST00000698864.1:n.1620A>T
ENST00000698865.1:c.1426A>T ENSP00000513992.1:p.Ile476Phe
ENST00000698866.1:c.*919A>T ENSP00000513993.1:n.*919A>T
ENST00000698867.1:n.5380A>T
ENST00000698868.1:c.1270A>T ENSP00000513994.1:p.Ile424Phe
ENST00000698869.1:c.1311+203A>T ENSP00000513995.1:n.1311+203A>T
ENST00000698870.1:c.1405A>T ENSP00000513996.1:p.Ile469Phe
ENST00000698871.1:n.1928A>T
ENST00000698872.1:c.*194A>T ENSP00000513997.1:n.*194A>T
ENST00000698873.1:c.*600A>T ENSP00000513998.1:n.*600A>T
ENST00000698874.1:c.865A>T ENSP00000513999.1:p.Ile289Phe
ENST00000698875.1:n.1265A>T
ENST00000698876.1:n.1453A>T
ENST00000698877.1:n.973A>T
ENST00000698878.1:c.1399A>T ENSP00000514000.1:p.Ile467Phe
ENST00000698880.1:c.1273A>T
ENST00000345728.10:c.1405A>T MANE Select ENSP00000339950.5:p.Ile469Phe
ENST00000279227.9:c.1417A>T ENSP00000279227.5:p.Ile473Phe
ENST00000345728.9:c.1405A>T ENSP00000339950.5:p.Ile469Phe
ENST00000541326.5:n.821A>T
ENST00000545896.1:c.93A>T ENSP00000440209.1:p.Pro31=
NM_031471.5:c.1405A>T NP_113659.3:p.Ile469Phe
NM_178443.2:c.1417A>T , LRG_180t1:c.1417A>T NP_848537.1:p.Ile473Phe
XM_011545294.1:c.1417A>T XP_011543596.1:p.Ile473Phe
XM_011545295.1:c.877A>T XP_011543597.1:p.Ile293Phe
XM_011545296.1:c.877A>T XP_011543598.1:p.Ile293Phe
XM_011545294.3:c.1417A>T XP_011543596.1:p.Ile473Phe
XM_011545295.2:c.877A>T XP_011543597.1:p.Ile293Phe
XM_017018398.2:c.1405A>T XP_016873887.1:p.Ile469Phe
XM_017018399.1:c.865A>T XP_016873888.1:p.Ile289Phe
NM_031471.6:c.1405A>T MANE Select NP_113659.3:p.Ile469Phe
NM_001382361.1:c.1405A>T NP_001369290.1:p.Ile469Phe
NM_001382362.1:c.1417A>T NP_001369291.1:p.Ile473Phe
NM_001382363.1:c.865A>T NP_001369292.1:p.Ile289Phe
NM_001382364.1:c.877A>T NP_001369293.1:p.Ile293Phe
NM_001382448.1:c.1405A>T NP_001369377.1:p.Ile469Phe
NM_178443.3:c.1417A>T NP_848537.1:p.Ile473Phe