Canonical Allele Identifier: CA475151752

Gene: FERMT3

Linked Data

• dbSNP Id: rs1311971393
• gnomAD v2: 11-63987765-G-A
• gnomAD v4: 11-64220293-G-A
• MyVariant Identifiers: chr11:g.63987765G>A (hg19) ; chr11:g.64220293G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220293G>A , CM000673.2:g.64220293G>A	GRCh38
NC_000011.9:g.63987765G>A , CM000673.1:g.63987765G>A	GRCh37
NC_000011.8:g.63744341G>A	NCBI36
NG_016360.1:g.18614G>A , LRG_180:g.18614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1290G>A	ENSP00000279227.5:p.Glu430=
ENST00000540554.2:n.2347G>A
ENST00000541252.2:c.738G>A	ENSP00000438885.2:p.Glu246=
ENST00000541326.6:n.590G>A
ENST00000544997.6:c.1278G>A	ENSP00000445778.2:p.Glu426=
ENST00000546255.2:n.1473G>A
ENST00000698845.1:c.*473G>A	ENSP00000513981.1:n.*473G>A
ENST00000698846.1:n.1415G>A
ENST00000698847.1:c.*683G>A	ENSP00000513982.1:n.*683G>A
ENST00000698848.1:n.467G>A
ENST00000698849.1:n.398G>A
ENST00000698850.1:n.937G>A
ENST00000698852.1:c.1278G>A	ENSP00000513984.1:p.Glu426=
ENST00000698853.1:c.*507G>A	ENSP00000513985.1:n.*507G>A
ENST00000698854.1:c.*608G>A	ENSP00000513986.1:n.*608G>A
ENST00000698855.1:n.2930G>A
ENST00000698856.1:n.2515G>A
ENST00000698859.1:n.1442G>A
ENST00000698860.1:c.1290G>A	ENSP00000513988.1:p.Glu430=
ENST00000698861.1:c.1278G>A	ENSP00000513989.1:p.Glu426=
ENST00000698862.1:c.*574G>A	ENSP00000513990.1:n.*574G>A
ENST00000698863.1:c.1278G>A	ENSP00000513991.1:p.Glu426=
ENST00000698864.1:n.1384G>A
ENST00000698865.1:c.1299G>A	ENSP00000513992.1:p.Glu433=
ENST00000698866.1:c.*683G>A	ENSP00000513993.1:n.*683G>A
ENST00000698867.1:n.5253G>A
ENST00000698868.1:c.1143G>A	ENSP00000513994.1:p.Glu381=
ENST00000698869.1:c.1278G>A	ENSP00000513995.1:p.Glu426=
ENST00000698870.1:c.1278G>A	ENSP00000513996.1:p.Glu426=
ENST00000698871.1:n.1801G>A
ENST00000698872.1:c.*67G>A	ENSP00000513997.1:n.*67G>A
ENST00000698873.1:c.*473G>A	ENSP00000513998.1:n.*473G>A
ENST00000698874.1:c.738G>A	ENSP00000513999.1:p.Glu246=
ENST00000698875.1:n.1138G>A
ENST00000698876.1:n.1217G>A
ENST00000698877.1:n.846G>A
ENST00000698878.1:c.1278G>A	ENSP00000514000.1:p.Glu426=
ENST00000698880.1:c.1118G>A
ENST00000345728.10:c.1278G>A MANE Select	ENSP00000339950.5:p.Glu426=
ENST00000279227.9:c.1290G>A	ENSP00000279227.5:p.Glu430=
ENST00000345728.9:c.1278G>A	ENSP00000339950.5:p.Glu426=
ENST00000540957.1:n.431G>A
ENST00000541326.5:n.585G>A
NM_031471.5:c.1278G>A	NP_113659.3:p.Glu426=
NM_178443.2:c.1290G>A , LRG_180t1:c.1290G>A	NP_848537.1:p.Glu430=
XM_011545294.1:c.1290G>A	XP_011543596.1:p.Glu430=
XM_011545295.1:c.750G>A	XP_011543597.1:p.Glu250=
XM_011545296.1:c.750G>A	XP_011543598.1:p.Glu250=
XM_011545294.3:c.1290G>A	XP_011543596.1:p.Glu430=
XM_011545295.2:c.750G>A	XP_011543597.1:p.Glu250=
XM_017018398.2:c.1278G>A	XP_016873887.1:p.Glu426=
XM_017018399.1:c.738G>A	XP_016873888.1:p.Glu246=
NM_031471.6:c.1278G>A MANE Select	NP_113659.3:p.Glu426=
NM_001382361.1:c.1278G>A	NP_001369290.1:p.Glu426=
NM_001382362.1:c.1290G>A	NP_001369291.1:p.Glu430=
NM_001382363.1:c.738G>A	NP_001369292.1:p.Glu246=
NM_001382364.1:c.750G>A	NP_001369293.1:p.Glu250=
NM_001382448.1:c.1278G>A	NP_001369377.1:p.Glu426=
NM_178443.3:c.1290G>A	NP_848537.1:p.Glu430=