Canonical Allele Identifier: CA6069274

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 928683
• ClinVar RCV Id: RCV001192941 ; RCV001349622
• dbSNP Id: rs767660746
• ExAC: 11:63990590 G / A
• gnomAD v2: 11-63990590-G-A
• gnomAD v3: 11-64223118-G-A
• gnomAD v4: 11-64223118-G-A
• MyVariant Identifiers: chr11:g.63990590G>A (hg19) ; chr11:g.64223118G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223118G>A , CM000673.2:g.64223118G>A	GRCh38
NC_000011.9:g.63990590G>A , CM000673.1:g.63990590G>A	GRCh37
NC_000011.8:g.63747166G>A	NCBI36
NG_016360.1:g.21439G>A , LRG_180:g.21439G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1753G>A	ENSP00000279227.5:p.Val585Met
ENST00000540554.2:n.3265G>A
ENST00000541252.2:c.1201G>A	ENSP00000438885.2:p.Val401Met
ENST00000544997.6:c.1741G>A	ENSP00000445778.2:p.Val581Met
ENST00000545896.2:c.305G>A	ENSP00000440209.2:p.Arg102His
ENST00000546255.2:n.2045G>A
ENST00000698845.1:c.*936G>A	ENSP00000513981.1:n.*936G>A
ENST00000698846.1:n.1987G>A
ENST00000698847.1:c.*1146G>A	ENSP00000513982.1:n.*1146G>A
ENST00000698850.1:n.3762G>A
ENST00000698852.1:c.1741G>A	ENSP00000513984.1:p.Val581Met
ENST00000698853.1:c.*970G>A	ENSP00000513985.1:n.*970G>A
ENST00000698854.1:c.*1071G>A	ENSP00000513986.1:n.*1071G>A
ENST00000698855.1:n.3393G>A
ENST00000698856.1:n.3087G>A
ENST00000698859.1:n.2251G>A
ENST00000698860.1:c.1753G>A	ENSP00000513988.1:p.Val585Met
ENST00000698861.1:c.1741G>A	ENSP00000513989.1:p.Val581Met
ENST00000698862.1:c.*1037G>A	ENSP00000513990.1:n.*1037G>A
ENST00000698863.1:c.1741G>A	ENSP00000513991.1:p.Val581Met
ENST00000698864.1:n.2302G>A
ENST00000698865.1:c.1762G>A	ENSP00000513992.1:p.Val588Met
ENST00000698866.1:c.*1529G>A	ENSP00000513993.1:n.*1529G>A
ENST00000698867.1:n.5716G>A
ENST00000698868.1:c.1606G>A	ENSP00000513994.1:p.Val536Met
ENST00000698869.1:c.1507G>A	ENSP00000513995.1:p.Val503Met
ENST00000698870.1:c.1741G>A	ENSP00000513996.1:p.Val581Met
ENST00000698871.1:n.2264G>A
ENST00000698872.1:c.*530G>A	ENSP00000513997.1:n.*530G>A
ENST00000698873.1:c.*936G>A	ENSP00000513998.1:n.*936G>A
ENST00000698874.1:c.1201G>A	ENSP00000513999.1:p.Val401Met
ENST00000698875.1:n.1601G>A
ENST00000698876.1:n.1789G>A
ENST00000698877.1:n.1309G>A
ENST00000698878.1:c.1735G>A	ENSP00000514000.1:p.Val579Met
ENST00000698880.1:c.1609G>A
ENST00000345728.10:c.1741G>A MANE Select	ENSP00000339950.5:p.Val581Met
ENST00000279227.9:c.1753G>A	ENSP00000279227.5:p.Val585Met
ENST00000345728.9:c.1741G>A	ENSP00000339950.5:p.Val581Met
ENST00000540554.1:n.377G>A
ENST00000545896.1:c.304G>A	ENSP00000440209.1:p.Val102Met
NM_031471.5:c.1741G>A	NP_113659.3:p.Val581Met
NM_178443.2:c.1753G>A , LRG_180t1:c.1753G>A	NP_848537.1:p.Val585Met
XM_011545294.1:c.1753G>A	XP_011543596.1:p.Val585Met
XM_011545295.1:c.1213G>A	XP_011543597.1:p.Val405Met
XM_011545296.1:c.1213G>A	XP_011543598.1:p.Val405Met
XM_011545294.3:c.1753G>A	XP_011543596.1:p.Val585Met
XM_011545295.2:c.1213G>A	XP_011543597.1:p.Val405Met
XM_017018398.2:c.1741G>A	XP_016873887.1:p.Val581Met
XM_017018399.1:c.1201G>A	XP_016873888.1:p.Val401Met
NM_031471.6:c.1741G>A MANE Select	NP_113659.3:p.Val581Met
NM_001382361.1:c.1741G>A	NP_001369290.1:p.Val581Met
NM_001382362.1:c.1753G>A	NP_001369291.1:p.Val585Met
NM_001382363.1:c.1201G>A	NP_001369292.1:p.Val401Met
NM_001382364.1:c.1213G>A	NP_001369293.1:p.Val405Met
NM_001382448.1:c.1741G>A	NP_001369377.1:p.Val581Met
NM_178443.3:c.1753G>A	NP_848537.1:p.Val585Met