Canonical Allele Identifier: CA6069277

Gene: FERMT3

Linked Data

• dbSNP Id: rs373812392
• ExAC: 11:63990599 G / A
• gnomAD v2: 11-63990599-G-A
• gnomAD v3: 11-64223127-G-A
• gnomAD v4: 11-64223127-G-A
• COSMIC: COSM397429 ; COSM397430
• MyVariant Identifiers: chr11:g.63990599G>A (hg19) ; chr11:g.64223127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223127G>A , CM000673.2:g.64223127G>A	GRCh38
NC_000011.9:g.63990599G>A , CM000673.1:g.63990599G>A	GRCh37
NC_000011.8:g.63747175G>A	NCBI36
NG_016360.1:g.21448G>A , LRG_180:g.21448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1762G>A	ENSP00000279227.5:p.Val588Met
ENST00000540554.2:n.3274G>A
ENST00000541252.2:c.1210G>A	ENSP00000438885.2:p.Val404Met
ENST00000544997.6:c.1750G>A	ENSP00000445778.2:p.Val584Met
ENST00000545896.2:c.314G>A	ENSP00000440209.2:p.Arg105His
ENST00000546255.2:n.2054G>A
ENST00000698845.1:c.*945G>A	ENSP00000513981.1:n.*945G>A
ENST00000698846.1:n.1996G>A
ENST00000698847.1:c.*1155G>A	ENSP00000513982.1:n.*1155G>A
ENST00000698850.1:n.3771G>A
ENST00000698852.1:c.1750G>A	ENSP00000513984.1:p.Val584Met
ENST00000698853.1:c.*979G>A	ENSP00000513985.1:n.*979G>A
ENST00000698854.1:c.*1080G>A	ENSP00000513986.1:n.*1080G>A
ENST00000698855.1:n.3402G>A
ENST00000698856.1:n.3096G>A
ENST00000698859.1:n.2260G>A
ENST00000698860.1:c.1762G>A	ENSP00000513988.1:p.Val588Met
ENST00000698861.1:c.1750G>A	ENSP00000513989.1:p.Val584Met
ENST00000698862.1:c.*1046G>A	ENSP00000513990.1:n.*1046G>A
ENST00000698863.1:c.1750G>A	ENSP00000513991.1:p.Val584Met
ENST00000698864.1:n.2311G>A
ENST00000698865.1:c.1771G>A	ENSP00000513992.1:p.Val591Met
ENST00000698866.1:c.*1538G>A	ENSP00000513993.1:n.*1538G>A
ENST00000698867.1:n.5725G>A
ENST00000698868.1:c.1615G>A	ENSP00000513994.1:p.Val539Met
ENST00000698869.1:c.1516G>A	ENSP00000513995.1:p.Val506Met
ENST00000698870.1:c.1750G>A	ENSP00000513996.1:p.Val584Met
ENST00000698871.1:n.2273G>A
ENST00000698872.1:c.*539G>A	ENSP00000513997.1:n.*539G>A
ENST00000698873.1:c.*945G>A	ENSP00000513998.1:n.*945G>A
ENST00000698874.1:c.1210G>A	ENSP00000513999.1:p.Val404Met
ENST00000698875.1:n.1610G>A
ENST00000698876.1:n.1798G>A
ENST00000698877.1:n.1318G>A
ENST00000698878.1:c.1744G>A	ENSP00000514000.1:p.Val582Met
ENST00000698880.1:c.1618G>A
ENST00000345728.10:c.1750G>A MANE Select	ENSP00000339950.5:p.Val584Met
ENST00000279227.9:c.1762G>A	ENSP00000279227.5:p.Val588Met
ENST00000345728.9:c.1750G>A	ENSP00000339950.5:p.Val584Met
ENST00000545896.1:c.313G>A	ENSP00000440209.1:p.Val105Met
NM_031471.5:c.1750G>A	NP_113659.3:p.Val584Met
NM_178443.2:c.1762G>A , LRG_180t1:c.1762G>A	NP_848537.1:p.Val588Met
XM_011545294.1:c.1762G>A	XP_011543596.1:p.Val588Met
XM_011545295.1:c.1222G>A	XP_011543597.1:p.Val408Met
XM_011545296.1:c.1222G>A	XP_011543598.1:p.Val408Met
XM_011545294.3:c.1762G>A	XP_011543596.1:p.Val588Met
XM_011545295.2:c.1222G>A	XP_011543597.1:p.Val408Met
XM_017018398.2:c.1750G>A	XP_016873887.1:p.Val584Met
XM_017018399.1:c.1210G>A	XP_016873888.1:p.Val404Met
NM_031471.6:c.1750G>A MANE Select	NP_113659.3:p.Val584Met
NM_001382361.1:c.1750G>A	NP_001369290.1:p.Val584Met
NM_001382362.1:c.1762G>A	NP_001369291.1:p.Val588Met
NM_001382363.1:c.1210G>A	NP_001369292.1:p.Val404Met
NM_001382364.1:c.1222G>A	NP_001369293.1:p.Val408Met
NM_001382448.1:c.1750G>A	NP_001369377.1:p.Val584Met
NM_178443.3:c.1762G>A	NP_848537.1:p.Val588Met