Canonical Allele Identifier: CA381088019

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63988064C>G (hg19) ; chr11:g.64220592C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220592C>G , CM000673.2:g.64220592C>G	GRCh38
NC_000011.9:g.63988064C>G , CM000673.1:g.63988064C>G	GRCh37
NC_000011.8:g.63744640C>G	NCBI36
NG_016360.1:g.18913C>G , LRG_180:g.18913C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1480C>G	ENSP00000279227.5:p.Pro494Ala
ENST00000540554.2:n.2646C>G
ENST00000541252.2:c.928C>G	ENSP00000438885.2:p.Pro310Ala
ENST00000541326.6:n.889C>G
ENST00000544997.6:c.1468C>G	ENSP00000445778.2:p.Pro490Ala
ENST00000545896.2:c.157C>G	ENSP00000440209.2:p.Pro53Ala
ENST00000546255.2:n.1772C>G
ENST00000698845.1:c.*663C>G	ENSP00000513981.1:n.*663C>G
ENST00000698846.1:n.1714C>G
ENST00000698847.1:c.*873C>G	ENSP00000513982.1:n.*873C>G
ENST00000698849.1:n.588C>G
ENST00000698850.1:n.1236C>G
ENST00000698852.1:c.1468C>G	ENSP00000513984.1:p.Pro490Ala
ENST00000698853.1:c.*697C>G	ENSP00000513985.1:n.*697C>G
ENST00000698854.1:c.*798C>G	ENSP00000513986.1:n.*798C>G
ENST00000698855.1:n.3120C>G
ENST00000698856.1:n.2814C>G
ENST00000698859.1:n.1632C>G
ENST00000698860.1:c.1480C>G	ENSP00000513988.1:p.Pro494Ala
ENST00000698861.1:c.1468C>G	ENSP00000513989.1:p.Pro490Ala
ENST00000698862.1:c.*764C>G	ENSP00000513990.1:n.*764C>G
ENST00000698863.1:c.1468C>G	ENSP00000513991.1:p.Pro490Ala
ENST00000698864.1:n.1683C>G
ENST00000698865.1:c.1489C>G	ENSP00000513992.1:p.Pro497Ala
ENST00000698866.1:c.*982C>G	ENSP00000513993.1:n.*982C>G
ENST00000698867.1:n.5443C>G
ENST00000698868.1:c.1333C>G	ENSP00000513994.1:p.Pro445Ala
ENST00000698869.1:c.1311+266C>G	ENSP00000513995.1:n.1311+266C>G
ENST00000698870.1:c.1468C>G	ENSP00000513996.1:p.Pro490Ala
ENST00000698871.1:n.1991C>G
ENST00000698872.1:c.*257C>G	ENSP00000513997.1:n.*257C>G
ENST00000698873.1:c.*663C>G	ENSP00000513998.1:n.*663C>G
ENST00000698874.1:c.928C>G	ENSP00000513999.1:p.Pro310Ala
ENST00000698875.1:n.1328C>G
ENST00000698876.1:n.1516C>G
ENST00000698877.1:n.1036C>G
ENST00000698878.1:c.1462C>G	ENSP00000514000.1:p.Pro488Ala
ENST00000698880.1:c.1336C>G
ENST00000345728.10:c.1468C>G MANE Select	ENSP00000339950.5:p.Pro490Ala
ENST00000279227.9:c.1480C>G	ENSP00000279227.5:p.Pro494Ala
ENST00000345728.9:c.1468C>G	ENSP00000339950.5:p.Pro490Ala
ENST00000541326.5:n.884C>G
ENST00000545896.1:c.156C>G	ENSP00000440209.1:p.Ala52=
NM_031471.5:c.1468C>G	NP_113659.3:p.Pro490Ala
NM_178443.2:c.1480C>G , LRG_180t1:c.1480C>G	NP_848537.1:p.Pro494Ala
XM_011545294.1:c.1480C>G	XP_011543596.1:p.Pro494Ala
XM_011545295.1:c.940C>G	XP_011543597.1:p.Pro314Ala
XM_011545296.1:c.940C>G	XP_011543598.1:p.Pro314Ala
XM_011545294.3:c.1480C>G	XP_011543596.1:p.Pro494Ala
XM_011545295.2:c.940C>G	XP_011543597.1:p.Pro314Ala
XM_017018398.2:c.1468C>G	XP_016873887.1:p.Pro490Ala
XM_017018399.1:c.928C>G	XP_016873888.1:p.Pro310Ala
NM_031471.6:c.1468C>G MANE Select	NP_113659.3:p.Pro490Ala
NM_001382361.1:c.1468C>G	NP_001369290.1:p.Pro490Ala
NM_001382362.1:c.1480C>G	NP_001369291.1:p.Pro494Ala
NM_001382363.1:c.928C>G	NP_001369292.1:p.Pro310Ala
NM_001382364.1:c.940C>G	NP_001369293.1:p.Pro314Ala
NM_001382448.1:c.1468C>G	NP_001369377.1:p.Pro490Ala
NM_178443.3:c.1480C>G	NP_848537.1:p.Pro494Ala