Canonical Allele Identifier: CA381088431

Gene: FERMT3

Linked Data

• dbSNP Id: rs184091587
• gnomAD v4: 11-64220640-C-G
• MyVariant Identifiers: chr11:g.63988112C>G (hg19) ; chr11:g.64220640C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220640C>G , CM000673.2:g.64220640C>G	GRCh38
NC_000011.9:g.63988112C>G , CM000673.1:g.63988112C>G	GRCh37
NC_000011.8:g.63744688C>G	NCBI36
NG_016360.1:g.18961C>G , LRG_180:g.18961C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1528C>G	ENSP00000279227.5:p.Arg510Gly
ENST00000540554.2:n.2694C>G
ENST00000541252.2:c.976C>G	ENSP00000438885.2:p.Arg326Gly
ENST00000541326.6:n.937C>G
ENST00000544997.6:c.1516C>G	ENSP00000445778.2:p.Arg506Gly
ENST00000545896.2:c.205C>G	ENSP00000440209.2:p.Arg69Gly
ENST00000546255.2:n.1820C>G
ENST00000698845.1:c.*711C>G	ENSP00000513981.1:n.*711C>G
ENST00000698846.1:n.1762C>G
ENST00000698847.1:c.*921C>G	ENSP00000513982.1:n.*921C>G
ENST00000698849.1:n.636C>G
ENST00000698850.1:n.1284C>G
ENST00000698852.1:c.1516C>G	ENSP00000513984.1:p.Arg506Gly
ENST00000698853.1:c.*745C>G	ENSP00000513985.1:n.*745C>G
ENST00000698854.1:c.*846C>G	ENSP00000513986.1:n.*846C>G
ENST00000698855.1:n.3168C>G
ENST00000698856.1:n.2862C>G
ENST00000698859.1:n.1680C>G
ENST00000698860.1:c.1528C>G	ENSP00000513988.1:p.Arg510Gly
ENST00000698861.1:c.1516C>G	ENSP00000513989.1:p.Arg506Gly
ENST00000698862.1:c.*812C>G	ENSP00000513990.1:n.*812C>G
ENST00000698863.1:c.1516C>G	ENSP00000513991.1:p.Arg506Gly
ENST00000698864.1:n.1731C>G
ENST00000698865.1:c.1537C>G	ENSP00000513992.1:p.Arg513Gly
ENST00000698866.1:c.*1030C>G	ENSP00000513993.1:n.*1030C>G
ENST00000698867.1:n.5491C>G
ENST00000698868.1:c.1381C>G	ENSP00000513994.1:p.Arg461Gly
ENST00000698869.1:c.1311+314C>G	ENSP00000513995.1:n.1311+314C>G
ENST00000698870.1:c.1516C>G	ENSP00000513996.1:p.Arg506Gly
ENST00000698871.1:n.2039C>G
ENST00000698872.1:c.*305C>G	ENSP00000513997.1:n.*305C>G
ENST00000698873.1:c.*711C>G	ENSP00000513998.1:n.*711C>G
ENST00000698874.1:c.976C>G	ENSP00000513999.1:p.Arg326Gly
ENST00000698875.1:n.1376C>G
ENST00000698876.1:n.1564C>G
ENST00000698877.1:n.1084C>G
ENST00000698878.1:c.1510C>G	ENSP00000514000.1:p.Arg504Gly
ENST00000698880.1:c.1384C>G
ENST00000345728.10:c.1516C>G MANE Select	ENSP00000339950.5:p.Arg506Gly
ENST00000279227.9:c.1528C>G	ENSP00000279227.5:p.Arg510Gly
ENST00000345728.9:c.1516C>G	ENSP00000339950.5:p.Arg506Gly
ENST00000545896.1:c.204C>G	ENSP00000440209.1:p.Pro68=
NM_031471.5:c.1516C>G	NP_113659.3:p.Arg506Gly
NM_178443.2:c.1528C>G , LRG_180t1:c.1528C>G	NP_848537.1:p.Arg510Gly
XM_011545294.1:c.1528C>G	XP_011543596.1:p.Arg510Gly
XM_011545295.1:c.988C>G	XP_011543597.1:p.Arg330Gly
XM_011545296.1:c.988C>G	XP_011543598.1:p.Arg330Gly
XM_011545294.3:c.1528C>G	XP_011543596.1:p.Arg510Gly
XM_011545295.2:c.988C>G	XP_011543597.1:p.Arg330Gly
XM_017018398.2:c.1516C>G	XP_016873887.1:p.Arg506Gly
XM_017018399.1:c.976C>G	XP_016873888.1:p.Arg326Gly
NM_031471.6:c.1516C>G MANE Select	NP_113659.3:p.Arg506Gly
NM_001382361.1:c.1516C>G	NP_001369290.1:p.Arg506Gly
NM_001382362.1:c.1528C>G	NP_001369291.1:p.Arg510Gly
NM_001382363.1:c.976C>G	NP_001369292.1:p.Arg326Gly
NM_001382364.1:c.988C>G	NP_001369293.1:p.Arg330Gly
NM_001382448.1:c.1516C>G	NP_001369377.1:p.Arg506Gly
NM_178443.3:c.1528C>G	NP_848537.1:p.Arg510Gly