Canonical Allele Identifier: CA381087843

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 2289845
• ClinVar RCV Id: RCV002837055
• MyVariant Identifiers: chr11:g.63988029C>A (hg19) ; chr11:g.64220557C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220557C>A , CM000673.2:g.64220557C>A	GRCh38
NC_000011.9:g.63988029C>A , CM000673.1:g.63988029C>A	GRCh37
NC_000011.8:g.63744605C>A	NCBI36
NG_016360.1:g.18878C>A , LRG_180:g.18878C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1445C>A	ENSP00000279227.5:p.Thr482Lys
ENST00000540554.2:n.2611C>A
ENST00000541252.2:c.893C>A	ENSP00000438885.2:p.Thr298Lys
ENST00000541326.6:n.854C>A
ENST00000544997.6:c.1433C>A	ENSP00000445778.2:p.Thr478Lys
ENST00000545896.2:c.122C>A	ENSP00000440209.2:p.Thr41Lys
ENST00000546255.2:n.1737C>A
ENST00000698845.1:c.*628C>A	ENSP00000513981.1:n.*628C>A
ENST00000698846.1:n.1679C>A
ENST00000698847.1:c.*838C>A	ENSP00000513982.1:n.*838C>A
ENST00000698849.1:n.553C>A
ENST00000698850.1:n.1201C>A
ENST00000698852.1:c.1433C>A	ENSP00000513984.1:p.Thr478Lys
ENST00000698853.1:c.*662C>A	ENSP00000513985.1:n.*662C>A
ENST00000698854.1:c.*763C>A	ENSP00000513986.1:n.*763C>A
ENST00000698855.1:n.3085C>A
ENST00000698856.1:n.2779C>A
ENST00000698859.1:n.1597C>A
ENST00000698860.1:c.1445C>A	ENSP00000513988.1:p.Thr482Lys
ENST00000698861.1:c.1433C>A	ENSP00000513989.1:p.Thr478Lys
ENST00000698862.1:c.*729C>A	ENSP00000513990.1:n.*729C>A
ENST00000698863.1:c.1433C>A	ENSP00000513991.1:p.Thr478Lys
ENST00000698864.1:n.1648C>A
ENST00000698865.1:c.1454C>A	ENSP00000513992.1:p.Thr485Lys
ENST00000698866.1:c.*947C>A	ENSP00000513993.1:n.*947C>A
ENST00000698867.1:n.5408C>A
ENST00000698868.1:c.1298C>A	ENSP00000513994.1:p.Thr433Lys
ENST00000698869.1:c.1311+231C>A	ENSP00000513995.1:n.1311+231C>A
ENST00000698870.1:c.1433C>A	ENSP00000513996.1:p.Thr478Lys
ENST00000698871.1:n.1956C>A
ENST00000698872.1:c.*222C>A	ENSP00000513997.1:n.*222C>A
ENST00000698873.1:c.*628C>A	ENSP00000513998.1:n.*628C>A
ENST00000698874.1:c.893C>A	ENSP00000513999.1:p.Thr298Lys
ENST00000698875.1:n.1293C>A
ENST00000698876.1:n.1481C>A
ENST00000698877.1:n.1001C>A
ENST00000698878.1:c.1427C>A	ENSP00000514000.1:p.Thr476Lys
ENST00000698880.1:c.1301C>A
ENST00000345728.10:c.1433C>A MANE Select	ENSP00000339950.5:p.Thr478Lys
ENST00000279227.9:c.1445C>A	ENSP00000279227.5:p.Thr482Lys
ENST00000345728.9:c.1433C>A	ENSP00000339950.5:p.Thr478Lys
ENST00000541326.5:n.849C>A
ENST00000545896.1:c.121C>A	ENSP00000440209.1:p.Arg41=
NM_031471.5:c.1433C>A	NP_113659.3:p.Thr478Lys
NM_178443.2:c.1445C>A , LRG_180t1:c.1445C>A	NP_848537.1:p.Thr482Lys
XM_011545294.1:c.1445C>A	XP_011543596.1:p.Thr482Lys
XM_011545295.1:c.905C>A	XP_011543597.1:p.Thr302Lys
XM_011545296.1:c.905C>A	XP_011543598.1:p.Thr302Lys
XM_011545294.3:c.1445C>A	XP_011543596.1:p.Thr482Lys
XM_011545295.2:c.905C>A	XP_011543597.1:p.Thr302Lys
XM_017018398.2:c.1433C>A	XP_016873887.1:p.Thr478Lys
XM_017018399.1:c.893C>A	XP_016873888.1:p.Thr298Lys
NM_031471.6:c.1433C>A MANE Select	NP_113659.3:p.Thr478Lys
NM_001382361.1:c.1433C>A	NP_001369290.1:p.Thr478Lys
NM_001382362.1:c.1445C>A	NP_001369291.1:p.Thr482Lys
NM_001382363.1:c.893C>A	NP_001369292.1:p.Thr298Lys
NM_001382364.1:c.905C>A	NP_001369293.1:p.Thr302Lys
NM_001382448.1:c.1433C>A	NP_001369377.1:p.Thr478Lys
NM_178443.3:c.1445C>A	NP_848537.1:p.Thr482Lys