Canonical Allele Identifier: CA381089536

Gene: FERMT3

Linked Data

• dbSNP Id: rs1364429871
• gnomAD v2: 11-63990542-G-A
• gnomAD v4: 11-64223070-G-A
• COSMIC: COSM5839129 ; COSM5839130
• MyVariant Identifiers: chr11:g.63990542G>A (hg19) ; chr11:g.64223070G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223070G>A , CM000673.2:g.64223070G>A	GRCh38
NC_000011.9:g.63990542G>A , CM000673.1:g.63990542G>A	GRCh37
NC_000011.8:g.63747118G>A	NCBI36
NG_016360.1:g.21391G>A , LRG_180:g.21391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1705G>A	ENSP00000279227.5:p.Glu569Lys
ENST00000540554.2:n.3217G>A
ENST00000541252.2:c.1153G>A	ENSP00000438885.2:p.Glu385Lys
ENST00000544997.6:c.1693G>A	ENSP00000445778.2:p.Glu565Lys
ENST00000545896.2:c.257G>A	ENSP00000440209.2:p.Arg86Gln
ENST00000546255.2:n.1997G>A
ENST00000698845.1:c.*888G>A	ENSP00000513981.1:n.*888G>A
ENST00000698846.1:n.1939G>A
ENST00000698847.1:c.*1098G>A	ENSP00000513982.1:n.*1098G>A
ENST00000698850.1:n.3714G>A
ENST00000698852.1:c.1693G>A	ENSP00000513984.1:p.Glu565Lys
ENST00000698853.1:c.*922G>A	ENSP00000513985.1:n.*922G>A
ENST00000698854.1:c.*1023G>A	ENSP00000513986.1:n.*1023G>A
ENST00000698855.1:n.3345G>A
ENST00000698856.1:n.3039G>A
ENST00000698859.1:n.2203G>A
ENST00000698860.1:c.1705G>A	ENSP00000513988.1:p.Glu569Lys
ENST00000698861.1:c.1693G>A	ENSP00000513989.1:p.Glu565Lys
ENST00000698862.1:c.*989G>A	ENSP00000513990.1:n.*989G>A
ENST00000698863.1:c.1693G>A	ENSP00000513991.1:p.Glu565Lys
ENST00000698864.1:n.2254G>A
ENST00000698865.1:c.1714G>A	ENSP00000513992.1:p.Glu572Lys
ENST00000698866.1:c.*1481G>A	ENSP00000513993.1:n.*1481G>A
ENST00000698867.1:n.5668G>A
ENST00000698868.1:c.1558G>A	ENSP00000513994.1:p.Glu520Lys
ENST00000698869.1:c.1459G>A	ENSP00000513995.1:p.Glu487Lys
ENST00000698870.1:c.1693G>A	ENSP00000513996.1:p.Glu565Lys
ENST00000698871.1:n.2216G>A
ENST00000698872.1:c.*482G>A	ENSP00000513997.1:n.*482G>A
ENST00000698873.1:c.*888G>A	ENSP00000513998.1:n.*888G>A
ENST00000698874.1:c.1153G>A	ENSP00000513999.1:p.Glu385Lys
ENST00000698875.1:n.1553G>A
ENST00000698876.1:n.1741G>A
ENST00000698877.1:n.1261G>A
ENST00000698878.1:c.1687G>A	ENSP00000514000.1:p.Glu563Lys
ENST00000698880.1:c.1561G>A
ENST00000345728.10:c.1693G>A MANE Select	ENSP00000339950.5:p.Glu565Lys
ENST00000279227.9:c.1705G>A	ENSP00000279227.5:p.Glu569Lys
ENST00000345728.9:c.1693G>A	ENSP00000339950.5:p.Glu565Lys
ENST00000540554.1:n.329G>A
ENST00000545896.1:c.256G>A	ENSP00000440209.1:p.Glu86Lys
NM_031471.5:c.1693G>A	NP_113659.3:p.Glu565Lys
NM_178443.2:c.1705G>A , LRG_180t1:c.1705G>A	NP_848537.1:p.Glu569Lys
XM_011545294.1:c.1705G>A	XP_011543596.1:p.Glu569Lys
XM_011545295.1:c.1165G>A	XP_011543597.1:p.Glu389Lys
XM_011545296.1:c.1165G>A	XP_011543598.1:p.Glu389Lys
XM_011545294.3:c.1705G>A	XP_011543596.1:p.Glu569Lys
XM_011545295.2:c.1165G>A	XP_011543597.1:p.Glu389Lys
XM_017018398.2:c.1693G>A	XP_016873887.1:p.Glu565Lys
XM_017018399.1:c.1153G>A	XP_016873888.1:p.Glu385Lys
NM_031471.6:c.1693G>A MANE Select	NP_113659.3:p.Glu565Lys
NM_001382361.1:c.1693G>A	NP_001369290.1:p.Glu565Lys
NM_001382362.1:c.1705G>A	NP_001369291.1:p.Glu569Lys
NM_001382363.1:c.1153G>A	NP_001369292.1:p.Glu385Lys
NM_001382364.1:c.1165G>A	NP_001369293.1:p.Glu389Lys
NM_001382448.1:c.1693G>A	NP_001369377.1:p.Glu565Lys
NM_178443.3:c.1705G>A	NP_848537.1:p.Glu569Lys