Canonical Allele Identifier: CA381087248

Gene: FERMT3

Linked Data

• dbSNP Id: rs1294345991
• gnomAD v4: 11-64220315-C-T
• MyVariant Identifiers: chr11:g.63987787C>T (hg19) ; chr11:g.64220315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220315C>T , CM000673.2:g.64220315C>T	GRCh38
NC_000011.9:g.63987787C>T , CM000673.1:g.63987787C>T	GRCh37
NC_000011.8:g.63744363C>T	NCBI36
NG_016360.1:g.18636C>T , LRG_180:g.18636C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1312C>T	ENSP00000279227.5:p.Arg438Trp
ENST00000540554.2:n.2369C>T
ENST00000541252.2:c.760C>T	ENSP00000438885.2:p.Arg254Trp
ENST00000541326.6:n.612C>T
ENST00000544997.6:c.1300C>T	ENSP00000445778.2:p.Arg434Trp
ENST00000546255.2:n.1495C>T
ENST00000698845.1:c.*495C>T	ENSP00000513981.1:n.*495C>T
ENST00000698846.1:n.1437C>T
ENST00000698847.1:c.*705C>T	ENSP00000513982.1:n.*705C>T
ENST00000698848.1:n.489C>T
ENST00000698849.1:n.420C>T
ENST00000698850.1:n.959C>T
ENST00000698852.1:c.1300C>T	ENSP00000513984.1:p.Arg434Trp
ENST00000698853.1:c.*529C>T	ENSP00000513985.1:n.*529C>T
ENST00000698854.1:c.*630C>T	ENSP00000513986.1:n.*630C>T
ENST00000698855.1:n.2952C>T
ENST00000698856.1:n.2537C>T
ENST00000698859.1:n.1464C>T
ENST00000698860.1:c.1312C>T	ENSP00000513988.1:p.Arg438Trp
ENST00000698861.1:c.1300C>T	ENSP00000513989.1:p.Arg434Trp
ENST00000698862.1:c.*596C>T	ENSP00000513990.1:n.*596C>T
ENST00000698863.1:c.1300C>T	ENSP00000513991.1:p.Arg434Trp
ENST00000698864.1:n.1406C>T
ENST00000698865.1:c.1321C>T	ENSP00000513992.1:p.Arg441Trp
ENST00000698866.1:c.*705C>T	ENSP00000513993.1:n.*705C>T
ENST00000698867.1:n.5275C>T
ENST00000698868.1:c.1165C>T	ENSP00000513994.1:p.Arg389Trp
ENST00000698869.1:c.1300C>T	ENSP00000513995.1:p.Arg434Trp
ENST00000698870.1:c.1300C>T	ENSP00000513996.1:p.Arg434Trp
ENST00000698871.1:n.1823C>T
ENST00000698872.1:c.*89C>T	ENSP00000513997.1:n.*89C>T
ENST00000698873.1:c.*495C>T	ENSP00000513998.1:n.*495C>T
ENST00000698874.1:c.760C>T	ENSP00000513999.1:p.Arg254Trp
ENST00000698875.1:n.1160C>T
ENST00000698876.1:n.1239C>T
ENST00000698877.1:n.868C>T
ENST00000698878.1:c.1300C>T	ENSP00000514000.1:p.Arg434Trp
ENST00000698880.1:c.1140C>T
ENST00000345728.10:c.1300C>T MANE Select	ENSP00000339950.5:p.Arg434Trp
ENST00000279227.9:c.1312C>T	ENSP00000279227.5:p.Arg438Trp
ENST00000345728.9:c.1300C>T	ENSP00000339950.5:p.Arg434Trp
ENST00000540957.1:n.453C>T
ENST00000541326.5:n.607C>T
NM_031471.5:c.1300C>T	NP_113659.3:p.Arg434Trp
NM_178443.2:c.1312C>T , LRG_180t1:c.1312C>T	NP_848537.1:p.Arg438Trp
XM_011545294.1:c.1312C>T	XP_011543596.1:p.Arg438Trp
XM_011545295.1:c.772C>T	XP_011543597.1:p.Arg258Trp
XM_011545296.1:c.772C>T	XP_011543598.1:p.Arg258Trp
XM_011545294.3:c.1312C>T	XP_011543596.1:p.Arg438Trp
XM_011545295.2:c.772C>T	XP_011543597.1:p.Arg258Trp
XM_017018398.2:c.1300C>T	XP_016873887.1:p.Arg434Trp
XM_017018399.1:c.760C>T	XP_016873888.1:p.Arg254Trp
NM_031471.6:c.1300C>T MANE Select	NP_113659.3:p.Arg434Trp
NM_001382361.1:c.1300C>T	NP_001369290.1:p.Arg434Trp
NM_001382362.1:c.1312C>T	NP_001369291.1:p.Arg438Trp
NM_001382363.1:c.760C>T	NP_001369292.1:p.Arg254Trp
NM_001382364.1:c.772C>T	NP_001369293.1:p.Arg258Trp
NM_001382448.1:c.1300C>T	NP_001369377.1:p.Arg434Trp
NM_178443.3:c.1312C>T	NP_848537.1:p.Arg438Trp