Canonical Allele Identifier: CA1978639024

Gene: FERMT3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220528C= , CM000673.2:g.64220528C=	GRCh38
NC_000011.9:g.63988000C= , CM000673.1:g.63988000C=	GRCh37
NC_000011.8:g.63744576C=	NCBI36
NG_016360.1:g.18849C= , LRG_180:g.18849C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1416C=	ENSP00000279227.5:p.Ala472=
ENST00000540554.2:n.2582C=
ENST00000541252.2:c.864C=	ENSP00000438885.2:p.Ala288=
ENST00000541326.6:n.825C=
ENST00000544997.6:c.1404C=	ENSP00000445778.2:p.Ala468=
ENST00000545896.2:c.93C=	ENSP00000440209.2:p.Ala31=
ENST00000546255.2:n.1708C=
ENST00000698845.1:c.*599C=	ENSP00000513981.1:n.*599C=
ENST00000698846.1:n.1650C=
ENST00000698847.1:c.*809C=	ENSP00000513982.1:n.*809C=
ENST00000698849.1:n.524C=
ENST00000698850.1:n.1172C=
ENST00000698852.1:c.1404C=	ENSP00000513984.1:p.Ala468=
ENST00000698853.1:c.*633C=	ENSP00000513985.1:n.*633C=
ENST00000698854.1:c.*734C=	ENSP00000513986.1:n.*734C=
ENST00000698855.1:n.3056C=
ENST00000698856.1:n.2750C=
ENST00000698859.1:n.1568C=
ENST00000698860.1:c.1416C=	ENSP00000513988.1:p.Ala472=
ENST00000698861.1:c.1404C=	ENSP00000513989.1:p.Ala468=
ENST00000698862.1:c.*700C=	ENSP00000513990.1:n.*700C=
ENST00000698863.1:c.1404C=	ENSP00000513991.1:p.Ala468=
ENST00000698864.1:n.1619C=
ENST00000698865.1:c.1425C=	ENSP00000513992.1:p.Ala475=
ENST00000698866.1:c.*918C=	ENSP00000513993.1:n.*918C=
ENST00000698867.1:n.5379C=
ENST00000698868.1:c.1269C=	ENSP00000513994.1:p.Ala423=
ENST00000698869.1:c.1311+202C=	ENSP00000513995.1:n.1311+202C=
ENST00000698870.1:c.1404C=	ENSP00000513996.1:p.Ala468=
ENST00000698871.1:n.1927C=
ENST00000698872.1:c.*193C=	ENSP00000513997.1:n.*193C=
ENST00000698873.1:c.*599C=	ENSP00000513998.1:n.*599C=
ENST00000698874.1:c.864C=	ENSP00000513999.1:p.Ala288=
ENST00000698875.1:n.1264C=
ENST00000698876.1:n.1452C=
ENST00000698877.1:n.972C=
ENST00000698878.1:c.1398C=	ENSP00000514000.1:p.Ala466=
ENST00000698880.1:c.1272C=
ENST00000345728.10:c.1404C= MANE Select	ENSP00000339950.5:p.Ala468=
ENST00000279227.9:c.1416C=	ENSP00000279227.5:p.Ala472=
ENST00000345728.9:c.1404C=	ENSP00000339950.5:p.Ala468=
ENST00000541326.5:n.820C=
ENST00000545896.1:c.92C=	ENSP00000440209.1:p.Pro31=
NM_031471.5:c.1404C=	NP_113659.3:p.Ala468=
NM_178443.2:c.1416C= , LRG_180t1:c.1416C=	NP_848537.1:p.Ala472=
XM_011545294.1:c.1416C=	XP_011543596.1:p.Ala472=
XM_011545295.1:c.876C=	XP_011543597.1:p.Ala292=
XM_011545296.1:c.876C=	XP_011543598.1:p.Ala292=
XM_011545294.3:c.1416C=	XP_011543596.1:p.Ala472=
XM_011545295.2:c.876C=	XP_011543597.1:p.Ala292=
XM_017018398.2:c.1404C=	XP_016873887.1:p.Ala468=
XM_017018399.1:c.864C=	XP_016873888.1:p.Ala288=
NM_031471.6:c.1404C= MANE Select	NP_113659.3:p.Ala468=
NM_001382361.1:c.1404C=	NP_001369290.1:p.Ala468=
NM_001382362.1:c.1416C=	NP_001369291.1:p.Ala472=
NM_001382363.1:c.864C=	NP_001369292.1:p.Ala288=
NM_001382364.1:c.876C=	NP_001369293.1:p.Ala292=
NM_001382448.1:c.1404C=	NP_001369377.1:p.Ala468=
NM_178443.3:c.1416C=	NP_848537.1:p.Ala472=