Canonical Allele Identifier: CA381087065
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220263C>G , CM000673.2:g.64220263C>G GRCh38
NC_000011.9:g.63987735C>G , CM000673.1:g.63987735C>G GRCh37
NC_000011.8:g.63744311C>G NCBI36
NG_016360.1:g.18584C>G , LRG_180:g.18584C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1260C>G ENSP00000279227.5:p.Phe420Leu
ENST00000540554.2:n.2317C>G
ENST00000541252.2:c.708C>G ENSP00000438885.2:p.Phe236Leu
ENST00000541326.6:n.560C>G
ENST00000544997.6:c.1248C>G ENSP00000445778.2:p.Phe416Leu
ENST00000546255.2:n.1443C>G
ENST00000698845.1:c.*443C>G ENSP00000513981.1:n.*443C>G
ENST00000698846.1:n.1385C>G
ENST00000698847.1:c.*653C>G ENSP00000513982.1:n.*653C>G
ENST00000698848.1:n.437C>G
ENST00000698849.1:n.368C>G
ENST00000698850.1:n.907C>G
ENST00000698852.1:c.1248C>G ENSP00000513984.1:p.Phe416Leu
ENST00000698853.1:c.*477C>G ENSP00000513985.1:n.*477C>G
ENST00000698854.1:c.*578C>G ENSP00000513986.1:n.*578C>G
ENST00000698855.1:n.2900C>G
ENST00000698856.1:n.2485C>G
ENST00000698859.1:n.1412C>G
ENST00000698860.1:c.1260C>G ENSP00000513988.1:p.Phe420Leu
ENST00000698861.1:c.1248C>G ENSP00000513989.1:p.Phe416Leu
ENST00000698862.1:c.*544C>G ENSP00000513990.1:n.*544C>G
ENST00000698863.1:c.1248C>G ENSP00000513991.1:p.Phe416Leu
ENST00000698864.1:n.1354C>G
ENST00000698865.1:c.1269C>G ENSP00000513992.1:p.Phe423Leu
ENST00000698866.1:c.*653C>G ENSP00000513993.1:n.*653C>G
ENST00000698867.1:n.5223C>G
ENST00000698868.1:c.1113C>G ENSP00000513994.1:p.Phe371Leu
ENST00000698869.1:c.1248C>G ENSP00000513995.1:p.Phe416Leu
ENST00000698870.1:c.1248C>G ENSP00000513996.1:p.Phe416Leu
ENST00000698871.1:n.1771C>G
ENST00000698872.1:c.*37C>G ENSP00000513997.1:n.*37C>G
ENST00000698873.1:c.*443C>G ENSP00000513998.1:n.*443C>G
ENST00000698874.1:c.708C>G ENSP00000513999.1:p.Phe236Leu
ENST00000698875.1:n.1108C>G
ENST00000698876.1:n.1187C>G
ENST00000698877.1:n.816C>G
ENST00000698878.1:c.1248C>G ENSP00000514000.1:p.Phe416Leu
ENST00000698880.1:c.1088C>G
ENST00000345728.10:c.1248C>G MANE Select ENSP00000339950.5:p.Phe416Leu
ENST00000279227.9:c.1260C>G ENSP00000279227.5:p.Phe420Leu
ENST00000345728.9:c.1248C>G ENSP00000339950.5:p.Phe416Leu
ENST00000540957.1:n.401C>G
ENST00000541326.5:n.555C>G
NM_031471.5:c.1248C>G NP_113659.3:p.Phe416Leu
NM_178443.2:c.1260C>G , LRG_180t1:c.1260C>G NP_848537.1:p.Phe420Leu
XM_011545294.1:c.1260C>G XP_011543596.1:p.Phe420Leu
XM_011545295.1:c.720C>G XP_011543597.1:p.Phe240Leu
XM_011545296.1:c.720C>G XP_011543598.1:p.Phe240Leu
XM_011545294.3:c.1260C>G XP_011543596.1:p.Phe420Leu
XM_011545295.2:c.720C>G XP_011543597.1:p.Phe240Leu
XM_017018398.2:c.1248C>G XP_016873887.1:p.Phe416Leu
XM_017018399.1:c.708C>G XP_016873888.1:p.Phe236Leu
NM_031471.6:c.1248C>G MANE Select NP_113659.3:p.Phe416Leu
NM_001382361.1:c.1248C>G NP_001369290.1:p.Phe416Leu
NM_001382362.1:c.1260C>G NP_001369291.1:p.Phe420Leu
NM_001382363.1:c.708C>G NP_001369292.1:p.Phe236Leu
NM_001382364.1:c.720C>G NP_001369293.1:p.Phe240Leu
NM_001382448.1:c.1248C>G NP_001369377.1:p.Phe416Leu
NM_178443.3:c.1260C>G NP_848537.1:p.Phe420Leu