Canonical Allele Identifier: CA381087209

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63987776A>C (hg19) ; chr11:g.64220304A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220304A>C , CM000673.2:g.64220304A>C	GRCh38
NC_000011.9:g.63987776A>C , CM000673.1:g.63987776A>C	GRCh37
NC_000011.8:g.63744352A>C	NCBI36
NG_016360.1:g.18625A>C , LRG_180:g.18625A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1301A>C	ENSP00000279227.5:p.Glu434Ala
ENST00000540554.2:n.2358A>C
ENST00000541252.2:c.749A>C	ENSP00000438885.2:p.Glu250Ala
ENST00000541326.6:n.601A>C
ENST00000544997.6:c.1289A>C	ENSP00000445778.2:p.Glu430Ala
ENST00000546255.2:n.1484A>C
ENST00000698845.1:c.*484A>C	ENSP00000513981.1:n.*484A>C
ENST00000698846.1:n.1426A>C
ENST00000698847.1:c.*694A>C	ENSP00000513982.1:n.*694A>C
ENST00000698848.1:n.478A>C
ENST00000698849.1:n.409A>C
ENST00000698850.1:n.948A>C
ENST00000698852.1:c.1289A>C	ENSP00000513984.1:p.Glu430Ala
ENST00000698853.1:c.*518A>C	ENSP00000513985.1:n.*518A>C
ENST00000698854.1:c.*619A>C	ENSP00000513986.1:n.*619A>C
ENST00000698855.1:n.2941A>C
ENST00000698856.1:n.2526A>C
ENST00000698859.1:n.1453A>C
ENST00000698860.1:c.1301A>C	ENSP00000513988.1:p.Glu434Ala
ENST00000698861.1:c.1289A>C	ENSP00000513989.1:p.Glu430Ala
ENST00000698862.1:c.*585A>C	ENSP00000513990.1:n.*585A>C
ENST00000698863.1:c.1289A>C	ENSP00000513991.1:p.Glu430Ala
ENST00000698864.1:n.1395A>C
ENST00000698865.1:c.1310A>C	ENSP00000513992.1:p.Glu437Ala
ENST00000698866.1:c.*694A>C	ENSP00000513993.1:n.*694A>C
ENST00000698867.1:n.5264A>C
ENST00000698868.1:c.1154A>C	ENSP00000513994.1:p.Glu385Ala
ENST00000698869.1:c.1289A>C	ENSP00000513995.1:p.Glu430Ala
ENST00000698870.1:c.1289A>C	ENSP00000513996.1:p.Glu430Ala
ENST00000698871.1:n.1812A>C
ENST00000698872.1:c.*78A>C	ENSP00000513997.1:n.*78A>C
ENST00000698873.1:c.*484A>C	ENSP00000513998.1:n.*484A>C
ENST00000698874.1:c.749A>C	ENSP00000513999.1:p.Glu250Ala
ENST00000698875.1:n.1149A>C
ENST00000698876.1:n.1228A>C
ENST00000698877.1:n.857A>C
ENST00000698878.1:c.1289A>C	ENSP00000514000.1:p.Glu430Ala
ENST00000698880.1:c.1129A>C
ENST00000345728.10:c.1289A>C MANE Select	ENSP00000339950.5:p.Glu430Ala
ENST00000279227.9:c.1301A>C	ENSP00000279227.5:p.Glu434Ala
ENST00000345728.9:c.1289A>C	ENSP00000339950.5:p.Glu430Ala
ENST00000540957.1:n.442A>C
ENST00000541326.5:n.596A>C
NM_031471.5:c.1289A>C	NP_113659.3:p.Glu430Ala
NM_178443.2:c.1301A>C , LRG_180t1:c.1301A>C	NP_848537.1:p.Glu434Ala
XM_011545294.1:c.1301A>C	XP_011543596.1:p.Glu434Ala
XM_011545295.1:c.761A>C	XP_011543597.1:p.Glu254Ala
XM_011545296.1:c.761A>C	XP_011543598.1:p.Glu254Ala
XM_011545294.3:c.1301A>C	XP_011543596.1:p.Glu434Ala
XM_011545295.2:c.761A>C	XP_011543597.1:p.Glu254Ala
XM_017018398.2:c.1289A>C	XP_016873887.1:p.Glu430Ala
XM_017018399.1:c.749A>C	XP_016873888.1:p.Glu250Ala
NM_031471.6:c.1289A>C MANE Select	NP_113659.3:p.Glu430Ala
NM_001382361.1:c.1289A>C	NP_001369290.1:p.Glu430Ala
NM_001382362.1:c.1301A>C	NP_001369291.1:p.Glu434Ala
NM_001382363.1:c.749A>C	NP_001369292.1:p.Glu250Ala
NM_001382364.1:c.761A>C	NP_001369293.1:p.Glu254Ala
NM_001382448.1:c.1289A>C	NP_001369377.1:p.Glu430Ala
NM_178443.3:c.1301A>C	NP_848537.1:p.Glu434Ala