Canonical Allele Identifier: CA381090177
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64223185G>T , CM000673.2:g.64223185G>T GRCh38
NC_000011.9:g.63990657G>T , CM000673.1:g.63990657G>T GRCh37
NC_000011.8:g.63747233G>T NCBI36
NG_016360.1:g.21506G>T , LRG_180:g.21506G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1820G>T ENSP00000279227.5:p.Arg607Leu
ENST00000540554.2:n.3332G>T
ENST00000541252.2:c.1268G>T ENSP00000438885.2:p.Arg423Leu
ENST00000544997.6:c.1808G>T ENSP00000445778.2:p.Arg603Leu
ENST00000545896.2:c.372G>T ENSP00000440209.2:p.Pro124=
ENST00000546255.2:n.2112G>T
ENST00000698845.1:c.*1003G>T ENSP00000513981.1:n.*1003G>T
ENST00000698846.1:n.2054G>T
ENST00000698847.1:c.*1213G>T ENSP00000513982.1:n.*1213G>T
ENST00000698850.1:n.3829G>T
ENST00000698852.1:c.1808G>T ENSP00000513984.1:p.Arg603Leu
ENST00000698853.1:c.*1037G>T ENSP00000513985.1:n.*1037G>T
ENST00000698854.1:c.*1138G>T ENSP00000513986.1:n.*1138G>T
ENST00000698855.1:n.3460G>T
ENST00000698856.1:n.3154G>T
ENST00000698859.1:n.2318G>T
ENST00000698860.1:c.1820G>T ENSP00000513988.1:p.Arg607Leu
ENST00000698861.1:c.1808G>T ENSP00000513989.1:p.Arg603Leu
ENST00000698862.1:c.*1104G>T ENSP00000513990.1:n.*1104G>T
ENST00000698863.1:c.1808G>T ENSP00000513991.1:p.Arg603Leu
ENST00000698864.1:n.2369G>T
ENST00000698865.1:c.1829G>T ENSP00000513992.1:p.Arg610Leu
ENST00000698866.1:c.*1596G>T ENSP00000513993.1:n.*1596G>T
ENST00000698867.1:n.5783G>T
ENST00000698868.1:c.1673G>T ENSP00000513994.1:p.Arg558Leu
ENST00000698869.1:c.1574G>T ENSP00000513995.1:p.Arg525Leu
ENST00000698870.1:c.1808G>T ENSP00000513996.1:p.Arg603Leu
ENST00000698871.1:n.2331G>T
ENST00000698872.1:c.*597G>T ENSP00000513997.1:n.*597G>T
ENST00000698873.1:c.*1003G>T ENSP00000513998.1:n.*1003G>T
ENST00000698874.1:c.1268G>T ENSP00000513999.1:p.Arg423Leu
ENST00000698875.1:n.1668G>T
ENST00000698876.1:n.1856G>T
ENST00000698877.1:n.1376G>T
ENST00000698878.1:c.1802G>T ENSP00000514000.1:p.Arg601Leu
ENST00000698880.1:c.1676G>T
ENST00000345728.10:c.1808G>T MANE Select ENSP00000339950.5:p.Arg603Leu
ENST00000279227.9:c.1820G>T ENSP00000279227.5:p.Arg607Leu
ENST00000345728.9:c.1808G>T ENSP00000339950.5:p.Arg603Leu
ENST00000545896.1:c.371G>T ENSP00000440209.1:p.Arg124Leu
NM_031471.5:c.1808G>T NP_113659.3:p.Arg603Leu
NM_178443.2:c.1820G>T , LRG_180t1:c.1820G>T NP_848537.1:p.Arg607Leu
XM_011545294.1:c.1820G>T XP_011543596.1:p.Arg607Leu
XM_011545295.1:c.1280G>T XP_011543597.1:p.Arg427Leu
XM_011545296.1:c.1280G>T XP_011543598.1:p.Arg427Leu
XM_011545294.3:c.1820G>T XP_011543596.1:p.Arg607Leu
XM_011545295.2:c.1280G>T XP_011543597.1:p.Arg427Leu
XM_017018398.2:c.1808G>T XP_016873887.1:p.Arg603Leu
XM_017018399.1:c.1268G>T XP_016873888.1:p.Arg423Leu
NM_031471.6:c.1808G>T MANE Select NP_113659.3:p.Arg603Leu
NM_001382361.1:c.1808G>T NP_001369290.1:p.Arg603Leu
NM_001382362.1:c.1820G>T NP_001369291.1:p.Arg607Leu
NM_001382363.1:c.1268G>T NP_001369292.1:p.Arg423Leu
NM_001382364.1:c.1280G>T NP_001369293.1:p.Arg427Leu
NM_001382448.1:c.1808G>T NP_001369377.1:p.Arg603Leu
NM_178443.3:c.1820G>T NP_848537.1:p.Arg607Leu