Canonical Allele Identifier: CA381087714

Gene: FERMT3

Linked Data

• dbSNP Id: rs751370857
• gnomAD v2: 11-63988004-C-A
• COSMIC: COSM4684365 ; COSM4684366
• MyVariant Identifiers: chr11:g.63988004C>A (hg19) ; chr11:g.64220532C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220532C>A , CM000673.2:g.64220532C>A	GRCh38
NC_000011.9:g.63988004C>A , CM000673.1:g.63988004C>A	GRCh37
NC_000011.8:g.63744580C>A	NCBI36
NG_016360.1:g.18853C>A , LRG_180:g.18853C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1420C>A	ENSP00000279227.5:p.Leu474Met
ENST00000540554.2:n.2586C>A
ENST00000541252.2:c.868C>A	ENSP00000438885.2:p.Leu290Met
ENST00000541326.6:n.829C>A
ENST00000544997.6:c.1408C>A	ENSP00000445778.2:p.Leu470Met
ENST00000545896.2:c.97C>A	ENSP00000440209.2:p.Leu33Met
ENST00000546255.2:n.1712C>A
ENST00000698845.1:c.*603C>A	ENSP00000513981.1:n.*603C>A
ENST00000698846.1:n.1654C>A
ENST00000698847.1:c.*813C>A	ENSP00000513982.1:n.*813C>A
ENST00000698849.1:n.528C>A
ENST00000698850.1:n.1176C>A
ENST00000698852.1:c.1408C>A	ENSP00000513984.1:p.Leu470Met
ENST00000698853.1:c.*637C>A	ENSP00000513985.1:n.*637C>A
ENST00000698854.1:c.*738C>A	ENSP00000513986.1:n.*738C>A
ENST00000698855.1:n.3060C>A
ENST00000698856.1:n.2754C>A
ENST00000698859.1:n.1572C>A
ENST00000698860.1:c.1420C>A	ENSP00000513988.1:p.Leu474Met
ENST00000698861.1:c.1408C>A	ENSP00000513989.1:p.Leu470Met
ENST00000698862.1:c.*704C>A	ENSP00000513990.1:n.*704C>A
ENST00000698863.1:c.1408C>A	ENSP00000513991.1:p.Leu470Met
ENST00000698864.1:n.1623C>A
ENST00000698865.1:c.1429C>A	ENSP00000513992.1:p.Leu477Met
ENST00000698866.1:c.*922C>A	ENSP00000513993.1:n.*922C>A
ENST00000698867.1:n.5383C>A
ENST00000698868.1:c.1273C>A	ENSP00000513994.1:p.Leu425Met
ENST00000698869.1:c.1311+206C>A	ENSP00000513995.1:n.1311+206C>A
ENST00000698870.1:c.1408C>A	ENSP00000513996.1:p.Leu470Met
ENST00000698871.1:n.1931C>A
ENST00000698872.1:c.*197C>A	ENSP00000513997.1:n.*197C>A
ENST00000698873.1:c.*603C>A	ENSP00000513998.1:n.*603C>A
ENST00000698874.1:c.868C>A	ENSP00000513999.1:p.Leu290Met
ENST00000698875.1:n.1268C>A
ENST00000698876.1:n.1456C>A
ENST00000698877.1:n.976C>A
ENST00000698878.1:c.1402C>A	ENSP00000514000.1:p.Leu468Met
ENST00000698880.1:c.1276C>A
ENST00000345728.10:c.1408C>A MANE Select	ENSP00000339950.5:p.Leu470Met
ENST00000279227.9:c.1420C>A	ENSP00000279227.5:p.Leu474Met
ENST00000345728.9:c.1408C>A	ENSP00000339950.5:p.Leu470Met
ENST00000541326.5:n.824C>A
ENST00000545896.1:c.96C>A	ENSP00000440209.1:p.Ser32=
NM_031471.5:c.1408C>A	NP_113659.3:p.Leu470Met
NM_178443.2:c.1420C>A , LRG_180t1:c.1420C>A	NP_848537.1:p.Leu474Met
XM_011545294.1:c.1420C>A	XP_011543596.1:p.Leu474Met
XM_011545295.1:c.880C>A	XP_011543597.1:p.Leu294Met
XM_011545296.1:c.880C>A	XP_011543598.1:p.Leu294Met
XM_011545294.3:c.1420C>A	XP_011543596.1:p.Leu474Met
XM_011545295.2:c.880C>A	XP_011543597.1:p.Leu294Met
XM_017018398.2:c.1408C>A	XP_016873887.1:p.Leu470Met
XM_017018399.1:c.868C>A	XP_016873888.1:p.Leu290Met
NM_031471.6:c.1408C>A MANE Select	NP_113659.3:p.Leu470Met
NM_001382361.1:c.1408C>A	NP_001369290.1:p.Leu470Met
NM_001382362.1:c.1420C>A	NP_001369291.1:p.Leu474Met
NM_001382363.1:c.868C>A	NP_001369292.1:p.Leu290Met
NM_001382364.1:c.880C>A	NP_001369293.1:p.Leu294Met
NM_001382448.1:c.1408C>A	NP_001369377.1:p.Leu470Met
NM_178443.3:c.1420C>A	NP_848537.1:p.Leu474Met