Canonical Allele Identifier: CA475151772

Gene: FERMT3

Linked Data

• dbSNP Id: rs2134903886
• MyVariant Identifiers: chr11:g.63990550G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223078G>T , CM000673.2:g.64223078G>T	GRCh38
NC_000011.9:g.63990550G>T , CM000673.1:g.63990550G>T	GRCh37
NC_000011.8:g.63747126G>T	NCBI36
NG_016360.1:g.21399G>T , LRG_180:g.21399G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1713G>T	ENSP00000279227.5:p.Leu571=
ENST00000540554.2:n.3225G>T
ENST00000541252.2:c.1161G>T	ENSP00000438885.2:p.Leu387=
ENST00000544997.6:c.1701G>T	ENSP00000445778.2:p.Leu567=
ENST00000545896.2:c.265G>T	ENSP00000440209.2:p.Gly89Trp
ENST00000546255.2:n.2005G>T
ENST00000698845.1:c.*896G>T	ENSP00000513981.1:n.*896G>T
ENST00000698846.1:n.1947G>T
ENST00000698847.1:c.*1106G>T	ENSP00000513982.1:n.*1106G>T
ENST00000698850.1:n.3722G>T
ENST00000698852.1:c.1701G>T	ENSP00000513984.1:p.Leu567=
ENST00000698853.1:c.*930G>T	ENSP00000513985.1:n.*930G>T
ENST00000698854.1:c.*1031G>T	ENSP00000513986.1:n.*1031G>T
ENST00000698855.1:n.3353G>T
ENST00000698856.1:n.3047G>T
ENST00000698859.1:n.2211G>T
ENST00000698860.1:c.1713G>T	ENSP00000513988.1:p.Leu571=
ENST00000698861.1:c.1701G>T	ENSP00000513989.1:p.Leu567=
ENST00000698862.1:c.*997G>T	ENSP00000513990.1:n.*997G>T
ENST00000698863.1:c.1701G>T	ENSP00000513991.1:p.Leu567=
ENST00000698864.1:n.2262G>T
ENST00000698865.1:c.1722G>T	ENSP00000513992.1:p.Leu574=
ENST00000698866.1:c.*1489G>T	ENSP00000513993.1:n.*1489G>T
ENST00000698867.1:n.5676G>T
ENST00000698868.1:c.1566G>T	ENSP00000513994.1:p.Leu522=
ENST00000698869.1:c.1467G>T	ENSP00000513995.1:p.Leu489=
ENST00000698870.1:c.1701G>T	ENSP00000513996.1:p.Leu567=
ENST00000698871.1:n.2224G>T
ENST00000698872.1:c.*490G>T	ENSP00000513997.1:n.*490G>T
ENST00000698873.1:c.*896G>T	ENSP00000513998.1:n.*896G>T
ENST00000698874.1:c.1161G>T	ENSP00000513999.1:p.Leu387=
ENST00000698875.1:n.1561G>T
ENST00000698876.1:n.1749G>T
ENST00000698877.1:n.1269G>T
ENST00000698878.1:c.1695G>T	ENSP00000514000.1:p.Leu565=
ENST00000698880.1:c.1569G>T
ENST00000345728.10:c.1701G>T MANE Select	ENSP00000339950.5:p.Leu567=
ENST00000279227.9:c.1713G>T	ENSP00000279227.5:p.Leu571=
ENST00000345728.9:c.1701G>T	ENSP00000339950.5:p.Leu567=
ENST00000540554.1:n.337G>T
ENST00000545896.1:c.264G>T	ENSP00000440209.1:p.Leu88=
NM_031471.5:c.1701G>T	NP_113659.3:p.Leu567=
NM_178443.2:c.1713G>T , LRG_180t1:c.1713G>T	NP_848537.1:p.Leu571=
XM_011545294.1:c.1713G>T	XP_011543596.1:p.Leu571=
XM_011545295.1:c.1173G>T	XP_011543597.1:p.Leu391=
XM_011545296.1:c.1173G>T	XP_011543598.1:p.Leu391=
XM_011545294.3:c.1713G>T	XP_011543596.1:p.Leu571=
XM_011545295.2:c.1173G>T	XP_011543597.1:p.Leu391=
XM_017018398.2:c.1701G>T	XP_016873887.1:p.Leu567=
XM_017018399.1:c.1161G>T	XP_016873888.1:p.Leu387=
NM_031471.6:c.1701G>T MANE Select	NP_113659.3:p.Leu567=
NM_001382361.1:c.1701G>T	NP_001369290.1:p.Leu567=
NM_001382362.1:c.1713G>T	NP_001369291.1:p.Leu571=
NM_001382363.1:c.1161G>T	NP_001369292.1:p.Leu387=
NM_001382364.1:c.1173G>T	NP_001369293.1:p.Leu391=
NM_001382448.1:c.1701G>T	NP_001369377.1:p.Leu567=
NM_178443.3:c.1713G>T	NP_848537.1:p.Leu571=