Canonical Allele Identifier: CA115701
Gene: FERMT3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2710
ClinVar RCV Id: RCV000002829
dbSNP Id: rs121918297

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64223094C>T , CM000673.2:g.64223094C>T GRCh38
NC_000011.9:g.63990566C>T , CM000673.1:g.63990566C>T GRCh37
NC_000011.8:g.63747142C>T NCBI36
NG_016360.1:g.21415C>T , LRG_180:g.21415C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000279227.10:c.1729C>T ENSP00000279227.5:p.Arg577Ter
ENST00000540554.2:n.3241C>T
ENST00000541252.2:c.1177C>T ENSP00000438885.2:p.Arg393Ter
ENST00000544997.6:c.1717C>T ENSP00000445778.2:p.Arg573Ter
ENST00000545896.2:c.281C>T ENSP00000440209.2:p.Pro94Leu
ENST00000546255.2:n.2021C>T
ENST00000698845.1:c.*912C>T ENSP00000513981.1:n.*912C>T
ENST00000698846.1:n.1963C>T
ENST00000698847.1:c.*1122C>T ENSP00000513982.1:n.*1122C>T
ENST00000698850.1:n.3738C>T
ENST00000698852.1:c.1717C>T ENSP00000513984.1:p.Arg573Ter
ENST00000698853.1:c.*946C>T ENSP00000513985.1:n.*946C>T
ENST00000698854.1:c.*1047C>T ENSP00000513986.1:n.*1047C>T
ENST00000698855.1:n.3369C>T
ENST00000698856.1:n.3063C>T
ENST00000698859.1:n.2227C>T
ENST00000698860.1:c.1729C>T ENSP00000513988.1:p.Arg577Ter
ENST00000698861.1:c.1717C>T ENSP00000513989.1:p.Arg573Ter
ENST00000698862.1:c.*1013C>T ENSP00000513990.1:n.*1013C>T
ENST00000698863.1:c.1717C>T ENSP00000513991.1:p.Arg573Ter
ENST00000698864.1:n.2278C>T
ENST00000698865.1:c.1738C>T ENSP00000513992.1:p.Arg580Ter
ENST00000698866.1:c.*1505C>T ENSP00000513993.1:n.*1505C>T
ENST00000698867.1:n.5692C>T
ENST00000698868.1:c.1582C>T ENSP00000513994.1:p.Arg528Ter
ENST00000698869.1:c.1483C>T ENSP00000513995.1:p.Arg495Ter
ENST00000698870.1:c.1717C>T ENSP00000513996.1:p.Arg573Ter
ENST00000698871.1:n.2240C>T
ENST00000698872.1:c.*506C>T ENSP00000513997.1:n.*506C>T
ENST00000698873.1:c.*912C>T ENSP00000513998.1:n.*912C>T
ENST00000698874.1:c.1177C>T ENSP00000513999.1:p.Arg393Ter
ENST00000698875.1:n.1577C>T
ENST00000698876.1:n.1765C>T
ENST00000698877.1:n.1285C>T
ENST00000698878.1:c.1711C>T ENSP00000514000.1:p.Arg571Ter
ENST00000698880.1:c.1585C>T
ENST00000345728.10:c.1717C>T MANE Select ENSP00000339950.5:p.Arg573Ter
ENST00000279227.9:c.1729C>T ENSP00000279227.5:p.Arg577Ter
ENST00000345728.9:c.1717C>T ENSP00000339950.5:p.Arg573Ter
ENST00000540554.1:n.353C>T
ENST00000545896.1:c.280C>T ENSP00000440209.1:p.Arg94Ter
NM_031471.5:c.1717C>T NP_113659.3:p.Arg573Ter
NM_178443.2:c.1729C>T , LRG_180t1:c.1729C>T NP_848537.1:p.Arg577Ter
XM_011545294.1:c.1729C>T XP_011543596.1:p.Arg577Ter
XM_011545295.1:c.1189C>T XP_011543597.1:p.Arg397Ter
XM_011545296.1:c.1189C>T XP_011543598.1:p.Arg397Ter
XM_011545294.3:c.1729C>T XP_011543596.1:p.Arg577Ter
XM_011545295.2:c.1189C>T XP_011543597.1:p.Arg397Ter
XM_017018398.2:c.1717C>T XP_016873887.1:p.Arg573Ter
XM_017018399.1:c.1177C>T XP_016873888.1:p.Arg393Ter
NM_031471.6:c.1717C>T MANE Select NP_113659.3:p.Arg573Ter
NM_001382361.1:c.1717C>T NP_001369290.1:p.Arg573Ter
NM_001382362.1:c.1729C>T NP_001369291.1:p.Arg577Ter
NM_001382363.1:c.1177C>T NP_001369292.1:p.Arg393Ter
NM_001382364.1:c.1189C>T NP_001369293.1:p.Arg397Ter
NM_001382448.1:c.1717C>T NP_001369377.1:p.Arg573Ter
NM_178443.3:c.1729C>T NP_848537.1:p.Arg577Ter