Canonical Allele Identifier: CA381088172

Gene: FERMT3

Linked Data

• dbSNP Id: rs1478637268
• gnomAD v2: 11-63988082-G-A
• MyVariant Identifiers: chr11:g.63988082G>A (hg19) ; chr11:g.64220610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220610G>A , CM000673.2:g.64220610G>A	GRCh38
NC_000011.9:g.63988082G>A , CM000673.1:g.63988082G>A	GRCh37
NC_000011.8:g.63744658G>A	NCBI36
NG_016360.1:g.18931G>A , LRG_180:g.18931G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1498G>A	ENSP00000279227.5:p.Gly500Ser
ENST00000540554.2:n.2664G>A
ENST00000541252.2:c.946G>A	ENSP00000438885.2:p.Gly316Ser
ENST00000541326.6:n.907G>A
ENST00000544997.6:c.1486G>A	ENSP00000445778.2:p.Gly496Ser
ENST00000545896.2:c.175G>A	ENSP00000440209.2:p.Gly59Ser
ENST00000546255.2:n.1790G>A
ENST00000698845.1:c.*681G>A	ENSP00000513981.1:n.*681G>A
ENST00000698846.1:n.1732G>A
ENST00000698847.1:c.*891G>A	ENSP00000513982.1:n.*891G>A
ENST00000698849.1:n.606G>A
ENST00000698850.1:n.1254G>A
ENST00000698852.1:c.1486G>A	ENSP00000513984.1:p.Gly496Ser
ENST00000698853.1:c.*715G>A	ENSP00000513985.1:n.*715G>A
ENST00000698854.1:c.*816G>A	ENSP00000513986.1:n.*816G>A
ENST00000698855.1:n.3138G>A
ENST00000698856.1:n.2832G>A
ENST00000698859.1:n.1650G>A
ENST00000698860.1:c.1498G>A	ENSP00000513988.1:p.Gly500Ser
ENST00000698861.1:c.1486G>A	ENSP00000513989.1:p.Gly496Ser
ENST00000698862.1:c.*782G>A	ENSP00000513990.1:n.*782G>A
ENST00000698863.1:c.1486G>A	ENSP00000513991.1:p.Gly496Ser
ENST00000698864.1:n.1701G>A
ENST00000698865.1:c.1507G>A	ENSP00000513992.1:p.Gly503Ser
ENST00000698866.1:c.*1000G>A	ENSP00000513993.1:n.*1000G>A
ENST00000698867.1:n.5461G>A
ENST00000698868.1:c.1351G>A	ENSP00000513994.1:p.Gly451Ser
ENST00000698869.1:c.1311+284G>A	ENSP00000513995.1:n.1311+284G>A
ENST00000698870.1:c.1486G>A	ENSP00000513996.1:p.Gly496Ser
ENST00000698871.1:n.2009G>A
ENST00000698872.1:c.*275G>A	ENSP00000513997.1:n.*275G>A
ENST00000698873.1:c.*681G>A	ENSP00000513998.1:n.*681G>A
ENST00000698874.1:c.946G>A	ENSP00000513999.1:p.Gly316Ser
ENST00000698875.1:n.1346G>A
ENST00000698876.1:n.1534G>A
ENST00000698877.1:n.1054G>A
ENST00000698878.1:c.1480G>A	ENSP00000514000.1:p.Gly494Ser
ENST00000698880.1:c.1354G>A
ENST00000345728.10:c.1486G>A MANE Select	ENSP00000339950.5:p.Gly496Ser
ENST00000279227.9:c.1498G>A	ENSP00000279227.5:p.Gly500Ser
ENST00000345728.9:c.1486G>A	ENSP00000339950.5:p.Gly496Ser
ENST00000545896.1:c.174G>A	ENSP00000440209.1:p.Arg58=
NM_031471.5:c.1486G>A	NP_113659.3:p.Gly496Ser
NM_178443.2:c.1498G>A , LRG_180t1:c.1498G>A	NP_848537.1:p.Gly500Ser
XM_011545294.1:c.1498G>A	XP_011543596.1:p.Gly500Ser
XM_011545295.1:c.958G>A	XP_011543597.1:p.Gly320Ser
XM_011545296.1:c.958G>A	XP_011543598.1:p.Gly320Ser
XM_011545294.3:c.1498G>A	XP_011543596.1:p.Gly500Ser
XM_011545295.2:c.958G>A	XP_011543597.1:p.Gly320Ser
XM_017018398.2:c.1486G>A	XP_016873887.1:p.Gly496Ser
XM_017018399.1:c.946G>A	XP_016873888.1:p.Gly316Ser
NM_031471.6:c.1486G>A MANE Select	NP_113659.3:p.Gly496Ser
NM_001382361.1:c.1486G>A	NP_001369290.1:p.Gly496Ser
NM_001382362.1:c.1498G>A	NP_001369291.1:p.Gly500Ser
NM_001382363.1:c.946G>A	NP_001369292.1:p.Gly316Ser
NM_001382364.1:c.958G>A	NP_001369293.1:p.Gly320Ser
NM_001382448.1:c.1486G>A	NP_001369377.1:p.Gly496Ser
NM_178443.3:c.1498G>A	NP_848537.1:p.Gly500Ser