Canonical Allele Identifier: CA381087798

Gene: FERMT3

Linked Data

• dbSNP Id: rs781158108
• gnomAD v2: 11-63988021-G-A
• MyVariant Identifiers: chr11:g.63988021G>A (hg19) ; chr11:g.64220549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220549G>A , CM000673.2:g.64220549G>A	GRCh38
NC_000011.9:g.63988021G>A , CM000673.1:g.63988021G>A	GRCh37
NC_000011.8:g.63744597G>A	NCBI36
NG_016360.1:g.18870G>A , LRG_180:g.18870G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1437G>A	ENSP00000279227.5:p.Leu479=
ENST00000540554.2:n.2603G>A
ENST00000541252.2:c.885G>A	ENSP00000438885.2:p.Leu295=
ENST00000541326.6:n.846G>A
ENST00000544997.6:c.1425G>A	ENSP00000445778.2:p.Leu475=
ENST00000545896.2:c.114G>A	ENSP00000440209.2:p.Leu38=
ENST00000546255.2:n.1729G>A
ENST00000698845.1:c.*620G>A	ENSP00000513981.1:n.*620G>A
ENST00000698846.1:n.1671G>A
ENST00000698847.1:c.*830G>A	ENSP00000513982.1:n.*830G>A
ENST00000698849.1:n.545G>A
ENST00000698850.1:n.1193G>A
ENST00000698852.1:c.1425G>A	ENSP00000513984.1:p.Leu475=
ENST00000698853.1:c.*654G>A	ENSP00000513985.1:n.*654G>A
ENST00000698854.1:c.*755G>A	ENSP00000513986.1:n.*755G>A
ENST00000698855.1:n.3077G>A
ENST00000698856.1:n.2771G>A
ENST00000698859.1:n.1589G>A
ENST00000698860.1:c.1437G>A	ENSP00000513988.1:p.Leu479=
ENST00000698861.1:c.1425G>A	ENSP00000513989.1:p.Leu475=
ENST00000698862.1:c.*721G>A	ENSP00000513990.1:n.*721G>A
ENST00000698863.1:c.1425G>A	ENSP00000513991.1:p.Leu475=
ENST00000698864.1:n.1640G>A
ENST00000698865.1:c.1446G>A	ENSP00000513992.1:p.Leu482=
ENST00000698866.1:c.*939G>A	ENSP00000513993.1:n.*939G>A
ENST00000698867.1:n.5400G>A
ENST00000698868.1:c.1290G>A	ENSP00000513994.1:p.Leu430=
ENST00000698869.1:c.1311+223G>A	ENSP00000513995.1:n.1311+223G>A
ENST00000698870.1:c.1425G>A	ENSP00000513996.1:p.Leu475=
ENST00000698871.1:n.1948G>A
ENST00000698872.1:c.*214G>A	ENSP00000513997.1:n.*214G>A
ENST00000698873.1:c.*620G>A	ENSP00000513998.1:n.*620G>A
ENST00000698874.1:c.885G>A	ENSP00000513999.1:p.Leu295=
ENST00000698875.1:n.1285G>A
ENST00000698876.1:n.1473G>A
ENST00000698877.1:n.993G>A
ENST00000698878.1:c.1419G>A	ENSP00000514000.1:p.Leu473=
ENST00000698880.1:c.1293G>A
ENST00000345728.10:c.1425G>A MANE Select	ENSP00000339950.5:p.Leu475=
ENST00000279227.9:c.1437G>A	ENSP00000279227.5:p.Leu479=
ENST00000345728.9:c.1425G>A	ENSP00000339950.5:p.Leu475=
ENST00000541326.5:n.841G>A
ENST00000545896.1:c.113G>A	ENSP00000440209.1:p.Cys38Tyr
NM_031471.5:c.1425G>A	NP_113659.3:p.Leu475=
NM_178443.2:c.1437G>A , LRG_180t1:c.1437G>A	NP_848537.1:p.Leu479=
XM_011545294.1:c.1437G>A	XP_011543596.1:p.Leu479=
XM_011545295.1:c.897G>A	XP_011543597.1:p.Leu299=
XM_011545296.1:c.897G>A	XP_011543598.1:p.Leu299=
XM_011545294.3:c.1437G>A	XP_011543596.1:p.Leu479=
XM_011545295.2:c.897G>A	XP_011543597.1:p.Leu299=
XM_017018398.2:c.1425G>A	XP_016873887.1:p.Leu475=
XM_017018399.1:c.885G>A	XP_016873888.1:p.Leu295=
NM_031471.6:c.1425G>A MANE Select	NP_113659.3:p.Leu475=
NM_001382361.1:c.1425G>A	NP_001369290.1:p.Leu475=
NM_001382362.1:c.1437G>A	NP_001369291.1:p.Leu479=
NM_001382363.1:c.885G>A	NP_001369292.1:p.Leu295=
NM_001382364.1:c.897G>A	NP_001369293.1:p.Leu299=
NM_001382448.1:c.1425G>A	NP_001369377.1:p.Leu475=
NM_178443.3:c.1437G>A	NP_848537.1:p.Leu479=