Canonical Allele Identifier: CA381087334

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 1092763
• ClinVar RCV Id: RCV001412733
• dbSNP Id: rs2134885222
• MyVariant Identifiers: chr11:g.63987910G>A (hg19) ; chr11:g.64220438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220438G>A , CM000673.2:g.64220438G>A	GRCh38
NC_000011.9:g.63987910G>A , CM000673.1:g.63987910G>A	GRCh37
NC_000011.8:g.63744486G>A	NCBI36
NG_016360.1:g.18759G>A , LRG_180:g.18759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1326G>A	ENSP00000279227.5:p.Glu442=
ENST00000540554.2:n.2492G>A
ENST00000541252.2:c.774G>A	ENSP00000438885.2:p.Glu258=
ENST00000541326.6:n.735G>A
ENST00000544997.6:c.1314G>A	ENSP00000445778.2:p.Glu438=
ENST00000545896.2:c.3G>A	ENSP00000440209.2:p.Glu1=
ENST00000546255.2:n.1618G>A
ENST00000698845.1:c.*509G>A	ENSP00000513981.1:n.*509G>A
ENST00000698846.1:n.1560G>A
ENST00000698847.1:c.*719G>A	ENSP00000513982.1:n.*719G>A
ENST00000698848.1:n.612G>A
ENST00000698849.1:n.434G>A
ENST00000698850.1:n.1082G>A
ENST00000698852.1:c.1314G>A	ENSP00000513984.1:p.Glu438=
ENST00000698853.1:c.*543G>A	ENSP00000513985.1:n.*543G>A
ENST00000698854.1:c.*644G>A	ENSP00000513986.1:n.*644G>A
ENST00000698855.1:n.2966G>A
ENST00000698856.1:n.2660G>A
ENST00000698859.1:n.1478G>A
ENST00000698860.1:c.1326G>A	ENSP00000513988.1:p.Glu442=
ENST00000698861.1:c.1314G>A	ENSP00000513989.1:p.Glu438=
ENST00000698862.1:c.*610G>A	ENSP00000513990.1:n.*610G>A
ENST00000698863.1:c.1314G>A	ENSP00000513991.1:p.Glu438=
ENST00000698864.1:n.1529G>A
ENST00000698865.1:c.1335G>A	ENSP00000513992.1:p.Glu445=
ENST00000698866.1:c.*828G>A	ENSP00000513993.1:n.*828G>A
ENST00000698867.1:n.5289G>A
ENST00000698868.1:c.1179G>A	ENSP00000513994.1:p.Glu393=
ENST00000698869.1:c.1311+112G>A	ENSP00000513995.1:n.1311+112G>A
ENST00000698870.1:c.1314G>A	ENSP00000513996.1:p.Glu438=
ENST00000698871.1:n.1837G>A
ENST00000698872.1:c.*103G>A	ENSP00000513997.1:n.*103G>A
ENST00000698873.1:c.*509G>A	ENSP00000513998.1:n.*509G>A
ENST00000698874.1:c.774G>A	ENSP00000513999.1:p.Glu258=
ENST00000698875.1:n.1174G>A
ENST00000698876.1:n.1362G>A
ENST00000698877.1:n.882G>A
ENST00000698878.1:c.1312-4G>A	ENSP00000514000.1:n.1312-4G>A
ENST00000698880.1:c.1182G>A
ENST00000345728.10:c.1314G>A MANE Select	ENSP00000339950.5:p.Glu438=
ENST00000279227.9:c.1326G>A	ENSP00000279227.5:p.Glu442=
ENST00000345728.9:c.1314G>A	ENSP00000339950.5:p.Glu438=
ENST00000540957.1:n.576G>A
ENST00000541326.5:n.730G>A
ENST00000545896.1:c.2G>A	ENSP00000440209.1:p.Ser1Asn
NM_031471.5:c.1314G>A	NP_113659.3:p.Glu438=
NM_178443.2:c.1326G>A , LRG_180t1:c.1326G>A	NP_848537.1:p.Glu442=
XM_011545294.1:c.1326G>A	XP_011543596.1:p.Glu442=
XM_011545295.1:c.786G>A	XP_011543597.1:p.Glu262=
XM_011545296.1:c.786G>A	XP_011543598.1:p.Glu262=
XM_011545294.3:c.1326G>A	XP_011543596.1:p.Glu442=
XM_011545295.2:c.786G>A	XP_011543597.1:p.Glu262=
XM_017018398.2:c.1314G>A	XP_016873887.1:p.Glu438=
XM_017018399.1:c.774G>A	XP_016873888.1:p.Glu258=
NM_031471.6:c.1314G>A MANE Select	NP_113659.3:p.Glu438=
NM_001382361.1:c.1314G>A	NP_001369290.1:p.Glu438=
NM_001382362.1:c.1326G>A	NP_001369291.1:p.Glu442=
NM_001382363.1:c.774G>A	NP_001369292.1:p.Glu258=
NM_001382364.1:c.786G>A	NP_001369293.1:p.Glu262=
NM_001382448.1:c.1314G>A	NP_001369377.1:p.Glu438=
NM_178443.3:c.1326G>A	NP_848537.1:p.Glu442=