Canonical Allele Identifier: CA2580084394

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 2018771
• ClinVar RCV Id: RCV002862234

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220332T>G , CM000673.2:g.64220332T>G	GRCh38
NC_000011.9:g.63987804T>G , CM000673.1:g.63987804T>G	GRCh37
NC_000011.8:g.63744380T>G	NCBI36
NG_016360.1:g.18653T>G , LRG_180:g.18653T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1323+6T>G	ENSP00000279227.5:n.1323+6T>G
ENST00000540554.2:n.2386T>G
ENST00000541252.2:c.771+6T>G	ENSP00000438885.2:n.771+6T>G
ENST00000541326.6:n.629T>G
ENST00000544997.6:c.1311+6T>G	ENSP00000445778.2:n.1311+6T>G
ENST00000546255.2:n.1512T>G
ENST00000698845.1:c.*506+6T>G	ENSP00000513981.1:n.*506+6T>G
ENST00000698846.1:n.1454T>G
ENST00000698847.1:c.*716+6T>G	ENSP00000513982.1:n.*716+6T>G
ENST00000698848.1:n.506T>G
ENST00000698849.1:n.431+6T>G
ENST00000698850.1:n.976T>G
ENST00000698852.1:c.1311+6T>G	ENSP00000513984.1:n.1311+6T>G
ENST00000698853.1:c.*540+6T>G	ENSP00000513985.1:n.*540+6T>G
ENST00000698854.1:c.*641+6T>G	ENSP00000513986.1:n.*641+6T>G
ENST00000698855.1:n.2963+6T>G
ENST00000698856.1:n.2554T>G
ENST00000698859.1:n.1475+6T>G
ENST00000698860.1:c.1323+6T>G	ENSP00000513988.1:n.1323+6T>G
ENST00000698861.1:c.1311+6T>G	ENSP00000513989.1:n.1311+6T>G
ENST00000698862.1:c.*607+6T>G	ENSP00000513990.1:n.*607+6T>G
ENST00000698863.1:c.1311+6T>G	ENSP00000513991.1:n.1311+6T>G
ENST00000698864.1:n.1423T>G
ENST00000698865.1:c.1332+6T>G	ENSP00000513992.1:n.1332+6T>G
ENST00000698866.1:c.*722T>G	ENSP00000513993.1:n.*722T>G
ENST00000698867.1:n.5286+6T>G
ENST00000698868.1:c.1176+6T>G	ENSP00000513994.1:n.1176+6T>G
ENST00000698869.1:c.1311+6T>G	ENSP00000513995.1:n.1311+6T>G
ENST00000698870.1:c.1311+6T>G	ENSP00000513996.1:n.1311+6T>G
ENST00000698871.1:n.1834+6T>G
ENST00000698872.1:c.*100+6T>G	ENSP00000513997.1:n.*100+6T>G
ENST00000698873.1:c.*506+6T>G	ENSP00000513998.1:n.*506+6T>G
ENST00000698874.1:c.771+6T>G	ENSP00000513999.1:n.771+6T>G
ENST00000698875.1:n.1171+6T>G
ENST00000698876.1:n.1256T>G
ENST00000698877.1:n.879+6T>G
ENST00000698878.1:c.1311+6T>G	ENSP00000514000.1:n.1311+6T>G
ENST00000698880.1:c.1151+6T>G
ENST00000345728.10:c.1311+6T>G MANE Select	ENSP00000339950.5:n.1311+6T>G
ENST00000279227.9:c.1323+6T>G	ENSP00000279227.5:n.1323+6T>G
ENST00000345728.9:c.1311+6T>G	ENSP00000339950.5:n.1311+6T>G
ENST00000540957.1:n.470T>G
ENST00000541326.5:n.624T>G
NM_031471.5:c.1311+6T>G	NP_113659.3:n.1311+6T>G
NM_178443.2:c.1323+6T>G , LRG_180t1:c.1323+6T>G	NP_848537.1:n.1323+6T>G
XM_011545294.1:c.1323+6T>G	XP_011543596.1:n.1323+6T>G
XM_011545295.1:c.783+6T>G	XP_011543597.1:n.783+6T>G
XM_011545296.1:c.783+6T>G	XP_011543598.1:n.783+6T>G
XM_011545294.3:c.1323+6T>G	XP_011543596.1:n.1323+6T>G
XM_011545295.2:c.783+6T>G	XP_011543597.1:n.783+6T>G
XM_017018398.2:c.1311+6T>G	XP_016873887.1:n.1311+6T>G
XM_017018399.1:c.771+6T>G	XP_016873888.1:n.771+6T>G
NM_031471.6:c.1311+6T>G MANE Select	NP_113659.3:n.1311+6T>G
NM_001382361.1:c.1311+6T>G	NP_001369290.1:n.1311+6T>G
NM_001382362.1:c.1323+6T>G	NP_001369291.1:n.1323+6T>G
NM_001382363.1:c.771+6T>G	NP_001369292.1:n.771+6T>G
NM_001382364.1:c.783+6T>G	NP_001369293.1:n.783+6T>G
NM_001382448.1:c.1311+6T>G	NP_001369377.1:n.1311+6T>G
NM_178443.3:c.1323+6T>G	NP_848537.1:n.1323+6T>G