Canonical Allele Identifier: CA381089399

Gene: FERMT3

Linked Data

• dbSNP Id: rs1409762608
• gnomAD v2: 11-63990521-T-C
• gnomAD v4: 11-64223049-T-C
• MyVariant Identifiers: chr11:g.63990521T>C (hg19) ; chr11:g.64223049T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223049T>C , CM000673.2:g.64223049T>C	GRCh38
NC_000011.9:g.63990521T>C , CM000673.1:g.63990521T>C	GRCh37
NC_000011.8:g.63747097T>C	NCBI36
NG_016360.1:g.21370T>C , LRG_180:g.21370T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1684T>C	ENSP00000279227.5:p.Phe562Leu
ENST00000540554.2:n.3196T>C
ENST00000541252.2:c.1132T>C	ENSP00000438885.2:p.Phe378Leu
ENST00000544997.6:c.1672T>C	ENSP00000445778.2:p.Phe558Leu
ENST00000545896.2:c.236T>C	ENSP00000440209.2:p.Val79Ala
ENST00000546255.2:n.1976T>C
ENST00000698845.1:c.*867T>C	ENSP00000513981.1:n.*867T>C
ENST00000698846.1:n.1918T>C
ENST00000698847.1:c.*1077T>C	ENSP00000513982.1:n.*1077T>C
ENST00000698850.1:n.3693T>C
ENST00000698852.1:c.1672T>C	ENSP00000513984.1:p.Phe558Leu
ENST00000698853.1:c.*901T>C	ENSP00000513985.1:n.*901T>C
ENST00000698854.1:c.*1002T>C	ENSP00000513986.1:n.*1002T>C
ENST00000698855.1:n.3324T>C
ENST00000698856.1:n.3018T>C
ENST00000698859.1:n.2182T>C
ENST00000698860.1:c.1684T>C	ENSP00000513988.1:p.Phe562Leu
ENST00000698861.1:c.1672T>C	ENSP00000513989.1:p.Phe558Leu
ENST00000698862.1:c.*968T>C	ENSP00000513990.1:n.*968T>C
ENST00000698863.1:c.1672T>C	ENSP00000513991.1:p.Phe558Leu
ENST00000698864.1:n.2233T>C
ENST00000698865.1:c.1693T>C	ENSP00000513992.1:p.Phe565Leu
ENST00000698866.1:c.*1460T>C	ENSP00000513993.1:n.*1460T>C
ENST00000698867.1:n.5647T>C
ENST00000698868.1:c.1537T>C	ENSP00000513994.1:p.Phe513Leu
ENST00000698869.1:c.1438T>C	ENSP00000513995.1:p.Phe480Leu
ENST00000698870.1:c.1672T>C	ENSP00000513996.1:p.Phe558Leu
ENST00000698871.1:n.2195T>C
ENST00000698872.1:c.*461T>C	ENSP00000513997.1:n.*461T>C
ENST00000698873.1:c.*867T>C	ENSP00000513998.1:n.*867T>C
ENST00000698874.1:c.1132T>C	ENSP00000513999.1:p.Phe378Leu
ENST00000698875.1:n.1532T>C
ENST00000698876.1:n.1720T>C
ENST00000698877.1:n.1240T>C
ENST00000698878.1:c.1666T>C	ENSP00000514000.1:p.Phe556Leu
ENST00000698880.1:c.1540T>C
ENST00000345728.10:c.1672T>C MANE Select	ENSP00000339950.5:p.Phe558Leu
ENST00000279227.9:c.1684T>C	ENSP00000279227.5:p.Phe562Leu
ENST00000345728.9:c.1672T>C	ENSP00000339950.5:p.Phe558Leu
ENST00000540554.1:n.308T>C
ENST00000545896.1:c.235T>C	ENSP00000440209.1:p.Phe79Leu
NM_031471.5:c.1672T>C	NP_113659.3:p.Phe558Leu
NM_178443.2:c.1684T>C , LRG_180t1:c.1684T>C	NP_848537.1:p.Phe562Leu
XM_011545294.1:c.1684T>C	XP_011543596.1:p.Phe562Leu
XM_011545295.1:c.1144T>C	XP_011543597.1:p.Phe382Leu
XM_011545296.1:c.1144T>C	XP_011543598.1:p.Phe382Leu
XM_011545294.3:c.1684T>C	XP_011543596.1:p.Phe562Leu
XM_011545295.2:c.1144T>C	XP_011543597.1:p.Phe382Leu
XM_017018398.2:c.1672T>C	XP_016873887.1:p.Phe558Leu
XM_017018399.1:c.1132T>C	XP_016873888.1:p.Phe378Leu
NM_031471.6:c.1672T>C MANE Select	NP_113659.3:p.Phe558Leu
NM_001382361.1:c.1672T>C	NP_001369290.1:p.Phe558Leu
NM_001382362.1:c.1684T>C	NP_001369291.1:p.Phe562Leu
NM_001382363.1:c.1132T>C	NP_001369292.1:p.Phe378Leu
NM_001382364.1:c.1144T>C	NP_001369293.1:p.Phe382Leu
NM_001382448.1:c.1672T>C	NP_001369377.1:p.Phe558Leu
NM_178443.3:c.1684T>C	NP_848537.1:p.Phe562Leu