Canonical Allele Identifier: CA115708
Gene: FERMT3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2712
ClinVar RCV Id: RCV000002831
dbSNP Id: rs121918295

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220649C>T , CM000673.2:g.64220649C>T GRCh38
NC_000011.9:g.63988121C>T , CM000673.1:g.63988121C>T GRCh37
NC_000011.8:g.63744697C>T NCBI36
NG_016360.1:g.18970C>T , LRG_180:g.18970C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000279227.10:c.1537C>T ENSP00000279227.5:p.Arg513Ter
ENST00000540554.2:n.2703C>T
ENST00000541252.2:c.985C>T ENSP00000438885.2:p.Arg329Ter
ENST00000541326.6:n.946C>T
ENST00000544997.6:c.1525C>T ENSP00000445778.2:p.Arg509Ter
ENST00000545896.2:c.214C>T ENSP00000440209.2:p.Arg72Ter
ENST00000546255.2:n.1829C>T
ENST00000698845.1:c.*720C>T ENSP00000513981.1:n.*720C>T
ENST00000698846.1:n.1771C>T
ENST00000698847.1:c.*930C>T ENSP00000513982.1:n.*930C>T
ENST00000698849.1:n.645C>T
ENST00000698850.1:n.1293C>T
ENST00000698852.1:c.1525C>T ENSP00000513984.1:p.Arg509Ter
ENST00000698853.1:c.*754C>T ENSP00000513985.1:n.*754C>T
ENST00000698854.1:c.*855C>T ENSP00000513986.1:n.*855C>T
ENST00000698855.1:n.3177C>T
ENST00000698856.1:n.2871C>T
ENST00000698859.1:n.1689C>T
ENST00000698860.1:c.1537C>T ENSP00000513988.1:p.Arg513Ter
ENST00000698861.1:c.1525C>T ENSP00000513989.1:p.Arg509Ter
ENST00000698862.1:c.*821C>T ENSP00000513990.1:n.*821C>T
ENST00000698863.1:c.1525C>T ENSP00000513991.1:p.Arg509Ter
ENST00000698864.1:n.1740C>T
ENST00000698865.1:c.1546C>T ENSP00000513992.1:p.Arg516Ter
ENST00000698866.1:c.*1039C>T ENSP00000513993.1:n.*1039C>T
ENST00000698867.1:n.5500C>T
ENST00000698868.1:c.1390C>T ENSP00000513994.1:p.Arg464Ter
ENST00000698869.1:c.1311+323C>T ENSP00000513995.1:n.1311+323C>T
ENST00000698870.1:c.1525C>T ENSP00000513996.1:p.Arg509Ter
ENST00000698871.1:n.2048C>T
ENST00000698872.1:c.*314C>T ENSP00000513997.1:n.*314C>T
ENST00000698873.1:c.*720C>T ENSP00000513998.1:n.*720C>T
ENST00000698874.1:c.985C>T ENSP00000513999.1:p.Arg329Ter
ENST00000698875.1:n.1385C>T
ENST00000698876.1:n.1573C>T
ENST00000698877.1:n.1093C>T
ENST00000698878.1:c.1519C>T ENSP00000514000.1:p.Arg507Ter
ENST00000698880.1:c.1393C>T
ENST00000345728.10:c.1525C>T MANE Select ENSP00000339950.5:p.Arg509Ter
ENST00000279227.9:c.1537C>T ENSP00000279227.5:p.Arg513Ter
ENST00000345728.9:c.1525C>T ENSP00000339950.5:p.Arg509Ter
ENST00000545896.1:c.213C>T ENSP00000440209.1:p.Ser71=
NM_031471.5:c.1525C>T NP_113659.3:p.Arg509Ter
NM_178443.2:c.1537C>T , LRG_180t1:c.1537C>T NP_848537.1:p.Arg513Ter
XM_011545294.1:c.1537C>T XP_011543596.1:p.Arg513Ter
XM_011545295.1:c.997C>T XP_011543597.1:p.Arg333Ter
XM_011545296.1:c.997C>T XP_011543598.1:p.Arg333Ter
XM_011545294.3:c.1537C>T XP_011543596.1:p.Arg513Ter
XM_011545295.2:c.997C>T XP_011543597.1:p.Arg333Ter
XM_017018398.2:c.1525C>T XP_016873887.1:p.Arg509Ter
XM_017018399.1:c.985C>T XP_016873888.1:p.Arg329Ter
NM_031471.6:c.1525C>T MANE Select NP_113659.3:p.Arg509Ter
NM_001382361.1:c.1525C>T NP_001369290.1:p.Arg509Ter
NM_001382362.1:c.1537C>T NP_001369291.1:p.Arg513Ter
NM_001382363.1:c.985C>T NP_001369292.1:p.Arg329Ter
NM_001382364.1:c.997C>T NP_001369293.1:p.Arg333Ter
NM_001382448.1:c.1525C>T NP_001369377.1:p.Arg509Ter
NM_178443.3:c.1537C>T NP_848537.1:p.Arg513Ter