Canonical Allele Identifier: CA6069170

Gene: FERMT3

Linked Data

• dbSNP Id: rs764103015
• ExAC: 11:63988059 A / G
• gnomAD v2: 11-63988059-A-G
• MyVariant Identifiers: chr11:g.63988059A>G (hg19) ; chr11:g.64220587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220587A>G , CM000673.2:g.64220587A>G	GRCh38
NC_000011.9:g.63988059A>G , CM000673.1:g.63988059A>G	GRCh37
NC_000011.8:g.63744635A>G	NCBI36
NG_016360.1:g.18908A>G , LRG_180:g.18908A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1475A>G	ENSP00000279227.5:p.His492Arg
ENST00000540554.2:n.2641A>G
ENST00000541252.2:c.923A>G	ENSP00000438885.2:p.His308Arg
ENST00000541326.6:n.884A>G
ENST00000544997.6:c.1463A>G	ENSP00000445778.2:p.His488Arg
ENST00000545896.2:c.152A>G	ENSP00000440209.2:p.His51Arg
ENST00000546255.2:n.1767A>G
ENST00000698845.1:c.*658A>G	ENSP00000513981.1:n.*658A>G
ENST00000698846.1:n.1709A>G
ENST00000698847.1:c.*868A>G	ENSP00000513982.1:n.*868A>G
ENST00000698849.1:n.583A>G
ENST00000698850.1:n.1231A>G
ENST00000698852.1:c.1463A>G	ENSP00000513984.1:p.His488Arg
ENST00000698853.1:c.*692A>G	ENSP00000513985.1:n.*692A>G
ENST00000698854.1:c.*793A>G	ENSP00000513986.1:n.*793A>G
ENST00000698855.1:n.3115A>G
ENST00000698856.1:n.2809A>G
ENST00000698859.1:n.1627A>G
ENST00000698860.1:c.1475A>G	ENSP00000513988.1:p.His492Arg
ENST00000698861.1:c.1463A>G	ENSP00000513989.1:p.His488Arg
ENST00000698862.1:c.*759A>G	ENSP00000513990.1:n.*759A>G
ENST00000698863.1:c.1463A>G	ENSP00000513991.1:p.His488Arg
ENST00000698864.1:n.1678A>G
ENST00000698865.1:c.1484A>G	ENSP00000513992.1:p.His495Arg
ENST00000698866.1:c.*977A>G	ENSP00000513993.1:n.*977A>G
ENST00000698867.1:n.5438A>G
ENST00000698868.1:c.1328A>G	ENSP00000513994.1:p.His443Arg
ENST00000698869.1:c.1311+261A>G	ENSP00000513995.1:n.1311+261A>G
ENST00000698870.1:c.1463A>G	ENSP00000513996.1:p.His488Arg
ENST00000698871.1:n.1986A>G
ENST00000698872.1:c.*252A>G	ENSP00000513997.1:n.*252A>G
ENST00000698873.1:c.*658A>G	ENSP00000513998.1:n.*658A>G
ENST00000698874.1:c.923A>G	ENSP00000513999.1:p.His308Arg
ENST00000698875.1:n.1323A>G
ENST00000698876.1:n.1511A>G
ENST00000698877.1:n.1031A>G
ENST00000698878.1:c.1457A>G	ENSP00000514000.1:p.His486Arg
ENST00000698880.1:c.1331A>G
ENST00000345728.10:c.1463A>G MANE Select	ENSP00000339950.5:p.His488Arg
ENST00000279227.9:c.1475A>G	ENSP00000279227.5:p.His492Arg
ENST00000345728.9:c.1463A>G	ENSP00000339950.5:p.His488Arg
ENST00000541326.5:n.879A>G
ENST00000545896.1:c.151A>G	ENSP00000440209.1:p.Thr51Ala
NM_031471.5:c.1463A>G	NP_113659.3:p.His488Arg
NM_178443.2:c.1475A>G , LRG_180t1:c.1475A>G	NP_848537.1:p.His492Arg
XM_011545294.1:c.1475A>G	XP_011543596.1:p.His492Arg
XM_011545295.1:c.935A>G	XP_011543597.1:p.His312Arg
XM_011545296.1:c.935A>G	XP_011543598.1:p.His312Arg
XM_011545294.3:c.1475A>G	XP_011543596.1:p.His492Arg
XM_011545295.2:c.935A>G	XP_011543597.1:p.His312Arg
XM_017018398.2:c.1463A>G	XP_016873887.1:p.His488Arg
XM_017018399.1:c.923A>G	XP_016873888.1:p.His308Arg
NM_031471.6:c.1463A>G MANE Select	NP_113659.3:p.His488Arg
NM_001382361.1:c.1463A>G	NP_001369290.1:p.His488Arg
NM_001382362.1:c.1475A>G	NP_001369291.1:p.His492Arg
NM_001382363.1:c.923A>G	NP_001369292.1:p.His308Arg
NM_001382364.1:c.935A>G	NP_001369293.1:p.His312Arg
NM_001382448.1:c.1463A>G	NP_001369377.1:p.His488Arg
NM_178443.3:c.1475A>G	NP_848537.1:p.His492Arg