Canonical Allele Identifier: CA6069159

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 1166763
• ClinVar RCV Id: RCV001515334 ; RCV002568028
• dbSNP Id: rs199749996
• ExAC: 11:63988026 G / A
• gnomAD v2: 11-63988026-G-A
• gnomAD v3: 11-64220554-G-A
• gnomAD v4: 11-64220554-G-A
• MyVariant Identifiers: chr11:g.63988026G>A (hg19) ; chr11:g.64220554G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220554G>A , CM000673.2:g.64220554G>A	GRCh38
NC_000011.9:g.63988026G>A , CM000673.1:g.63988026G>A	GRCh37
NC_000011.8:g.63744602G>A	NCBI36
NG_016360.1:g.18875G>A , LRG_180:g.18875G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1442G>A	ENSP00000279227.5:p.Arg481His
ENST00000540554.2:n.2608G>A
ENST00000541252.2:c.890G>A	ENSP00000438885.2:p.Arg297His
ENST00000541326.6:n.851G>A
ENST00000544997.6:c.1430G>A	ENSP00000445778.2:p.Arg477His
ENST00000545896.2:c.119G>A	ENSP00000440209.2:p.Arg40His
ENST00000546255.2:n.1734G>A
ENST00000698845.1:c.*625G>A	ENSP00000513981.1:n.*625G>A
ENST00000698846.1:n.1676G>A
ENST00000698847.1:c.*835G>A	ENSP00000513982.1:n.*835G>A
ENST00000698849.1:n.550G>A
ENST00000698850.1:n.1198G>A
ENST00000698852.1:c.1430G>A	ENSP00000513984.1:p.Arg477His
ENST00000698853.1:c.*659G>A	ENSP00000513985.1:n.*659G>A
ENST00000698854.1:c.*760G>A	ENSP00000513986.1:n.*760G>A
ENST00000698855.1:n.3082G>A
ENST00000698856.1:n.2776G>A
ENST00000698859.1:n.1594G>A
ENST00000698860.1:c.1442G>A	ENSP00000513988.1:p.Arg481His
ENST00000698861.1:c.1430G>A	ENSP00000513989.1:p.Arg477His
ENST00000698862.1:c.*726G>A	ENSP00000513990.1:n.*726G>A
ENST00000698863.1:c.1430G>A	ENSP00000513991.1:p.Arg477His
ENST00000698864.1:n.1645G>A
ENST00000698865.1:c.1451G>A	ENSP00000513992.1:p.Arg484His
ENST00000698866.1:c.*944G>A	ENSP00000513993.1:n.*944G>A
ENST00000698867.1:n.5405G>A
ENST00000698868.1:c.1295G>A	ENSP00000513994.1:p.Arg432His
ENST00000698869.1:c.1311+228G>A	ENSP00000513995.1:n.1311+228G>A
ENST00000698870.1:c.1430G>A	ENSP00000513996.1:p.Arg477His
ENST00000698871.1:n.1953G>A
ENST00000698872.1:c.*219G>A	ENSP00000513997.1:n.*219G>A
ENST00000698873.1:c.*625G>A	ENSP00000513998.1:n.*625G>A
ENST00000698874.1:c.890G>A	ENSP00000513999.1:p.Arg297His
ENST00000698875.1:n.1290G>A
ENST00000698876.1:n.1478G>A
ENST00000698877.1:n.998G>A
ENST00000698878.1:c.1424G>A	ENSP00000514000.1:p.Arg475His
ENST00000698880.1:c.1298G>A
ENST00000345728.10:c.1430G>A MANE Select	ENSP00000339950.5:p.Arg477His
ENST00000279227.9:c.1442G>A	ENSP00000279227.5:p.Arg481His
ENST00000345728.9:c.1430G>A	ENSP00000339950.5:p.Arg477His
ENST00000541326.5:n.846G>A
ENST00000545896.1:c.118G>A	ENSP00000440209.1:p.Ala40Thr
NM_031471.5:c.1430G>A	NP_113659.3:p.Arg477His
NM_178443.2:c.1442G>A , LRG_180t1:c.1442G>A	NP_848537.1:p.Arg481His
XM_011545294.1:c.1442G>A	XP_011543596.1:p.Arg481His
XM_011545295.1:c.902G>A	XP_011543597.1:p.Arg301His
XM_011545296.1:c.902G>A	XP_011543598.1:p.Arg301His
XM_011545294.3:c.1442G>A	XP_011543596.1:p.Arg481His
XM_011545295.2:c.902G>A	XP_011543597.1:p.Arg301His
XM_017018398.2:c.1430G>A	XP_016873887.1:p.Arg477His
XM_017018399.1:c.890G>A	XP_016873888.1:p.Arg297His
NM_031471.6:c.1430G>A MANE Select	NP_113659.3:p.Arg477His
NM_001382361.1:c.1430G>A	NP_001369290.1:p.Arg477His
NM_001382362.1:c.1442G>A	NP_001369291.1:p.Arg481His
NM_001382363.1:c.890G>A	NP_001369292.1:p.Arg297His
NM_001382364.1:c.902G>A	NP_001369293.1:p.Arg301His
NM_001382448.1:c.1430G>A	NP_001369377.1:p.Arg477His
NM_178443.3:c.1442G>A	NP_848537.1:p.Arg481His