Canonical Allele Identifier: CA381087848

Gene: FERMT3

Linked Data

• dbSNP Id: rs368102589
• gnomAD v2: 11-63988030-G-T
• gnomAD v4: 11-64220558-G-T
• MyVariant Identifiers: chr11:g.63988030G>T (hg19) ; chr11:g.64220558G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220558G>T , CM000673.2:g.64220558G>T	GRCh38
NC_000011.9:g.63988030G>T , CM000673.1:g.63988030G>T	GRCh37
NC_000011.8:g.63744606G>T	NCBI36
NG_016360.1:g.18879G>T , LRG_180:g.18879G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1446G>T	ENSP00000279227.5:p.Thr482=
ENST00000540554.2:n.2612G>T
ENST00000541252.2:c.894G>T	ENSP00000438885.2:p.Thr298=
ENST00000541326.6:n.855G>T
ENST00000544997.6:c.1434G>T	ENSP00000445778.2:p.Thr478=
ENST00000545896.2:c.123G>T	ENSP00000440209.2:p.Thr41=
ENST00000546255.2:n.1738G>T
ENST00000698845.1:c.*629G>T	ENSP00000513981.1:n.*629G>T
ENST00000698846.1:n.1680G>T
ENST00000698847.1:c.*839G>T	ENSP00000513982.1:n.*839G>T
ENST00000698849.1:n.554G>T
ENST00000698850.1:n.1202G>T
ENST00000698852.1:c.1434G>T	ENSP00000513984.1:p.Thr478=
ENST00000698853.1:c.*663G>T	ENSP00000513985.1:n.*663G>T
ENST00000698854.1:c.*764G>T	ENSP00000513986.1:n.*764G>T
ENST00000698855.1:n.3086G>T
ENST00000698856.1:n.2780G>T
ENST00000698859.1:n.1598G>T
ENST00000698860.1:c.1446G>T	ENSP00000513988.1:p.Thr482=
ENST00000698861.1:c.1434G>T	ENSP00000513989.1:p.Thr478=
ENST00000698862.1:c.*730G>T	ENSP00000513990.1:n.*730G>T
ENST00000698863.1:c.1434G>T	ENSP00000513991.1:p.Thr478=
ENST00000698864.1:n.1649G>T
ENST00000698865.1:c.1455G>T	ENSP00000513992.1:p.Thr485=
ENST00000698866.1:c.*948G>T	ENSP00000513993.1:n.*948G>T
ENST00000698867.1:n.5409G>T
ENST00000698868.1:c.1299G>T	ENSP00000513994.1:p.Thr433=
ENST00000698869.1:c.1311+232G>T	ENSP00000513995.1:n.1311+232G>T
ENST00000698870.1:c.1434G>T	ENSP00000513996.1:p.Thr478=
ENST00000698871.1:n.1957G>T
ENST00000698872.1:c.*223G>T	ENSP00000513997.1:n.*223G>T
ENST00000698873.1:c.*629G>T	ENSP00000513998.1:n.*629G>T
ENST00000698874.1:c.894G>T	ENSP00000513999.1:p.Thr298=
ENST00000698875.1:n.1294G>T
ENST00000698876.1:n.1482G>T
ENST00000698877.1:n.1002G>T
ENST00000698878.1:c.1428G>T	ENSP00000514000.1:p.Thr476=
ENST00000698880.1:c.1302G>T
ENST00000345728.10:c.1434G>T MANE Select	ENSP00000339950.5:p.Thr478=
ENST00000279227.9:c.1446G>T	ENSP00000279227.5:p.Thr482=
ENST00000345728.9:c.1434G>T	ENSP00000339950.5:p.Thr478=
ENST00000541326.5:n.850G>T
ENST00000545896.1:c.122G>T	ENSP00000440209.1:p.Arg41Leu
NM_031471.5:c.1434G>T	NP_113659.3:p.Thr478=
NM_178443.2:c.1446G>T , LRG_180t1:c.1446G>T	NP_848537.1:p.Thr482=
XM_011545294.1:c.1446G>T	XP_011543596.1:p.Thr482=
XM_011545295.1:c.906G>T	XP_011543597.1:p.Thr302=
XM_011545296.1:c.906G>T	XP_011543598.1:p.Thr302=
XM_011545294.3:c.1446G>T	XP_011543596.1:p.Thr482=
XM_011545295.2:c.906G>T	XP_011543597.1:p.Thr302=
XM_017018398.2:c.1434G>T	XP_016873887.1:p.Thr478=
XM_017018399.1:c.894G>T	XP_016873888.1:p.Thr298=
NM_031471.6:c.1434G>T MANE Select	NP_113659.3:p.Thr478=
NM_001382361.1:c.1434G>T	NP_001369290.1:p.Thr478=
NM_001382362.1:c.1446G>T	NP_001369291.1:p.Thr482=
NM_001382363.1:c.894G>T	NP_001369292.1:p.Thr298=
NM_001382364.1:c.906G>T	NP_001369293.1:p.Thr302=
NM_001382448.1:c.1434G>T	NP_001369377.1:p.Thr478=
NM_178443.3:c.1446G>T	NP_848537.1:p.Thr482=