Canonical Allele Identifier: CA381090056

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63990637G>C (hg19) ; chr11:g.64223165G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223165G>C , CM000673.2:g.64223165G>C	GRCh38
NC_000011.9:g.63990637G>C , CM000673.1:g.63990637G>C	GRCh37
NC_000011.8:g.63747213G>C	NCBI36
NG_016360.1:g.21486G>C , LRG_180:g.21486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1800G>C	ENSP00000279227.5:p.Trp600Cys
ENST00000540554.2:n.3312G>C
ENST00000541252.2:c.1248G>C	ENSP00000438885.2:p.Trp416Cys
ENST00000544997.6:c.1788G>C	ENSP00000445778.2:p.Trp596Cys
ENST00000545896.2:c.352G>C	ENSP00000440209.2:p.Glu118Gln
ENST00000546255.2:n.2092G>C
ENST00000698845.1:c.*983G>C	ENSP00000513981.1:n.*983G>C
ENST00000698846.1:n.2034G>C
ENST00000698847.1:c.*1193G>C	ENSP00000513982.1:n.*1193G>C
ENST00000698850.1:n.3809G>C
ENST00000698852.1:c.1788G>C	ENSP00000513984.1:p.Trp596Cys
ENST00000698853.1:c.*1017G>C	ENSP00000513985.1:n.*1017G>C
ENST00000698854.1:c.*1118G>C	ENSP00000513986.1:n.*1118G>C
ENST00000698855.1:n.3440G>C
ENST00000698856.1:n.3134G>C
ENST00000698859.1:n.2298G>C
ENST00000698860.1:c.1800G>C	ENSP00000513988.1:p.Trp600Cys
ENST00000698861.1:c.1788G>C	ENSP00000513989.1:p.Trp596Cys
ENST00000698862.1:c.*1084G>C	ENSP00000513990.1:n.*1084G>C
ENST00000698863.1:c.1788G>C	ENSP00000513991.1:p.Trp596Cys
ENST00000698864.1:n.2349G>C
ENST00000698865.1:c.1809G>C	ENSP00000513992.1:p.Trp603Cys
ENST00000698866.1:c.*1576G>C	ENSP00000513993.1:n.*1576G>C
ENST00000698867.1:n.5763G>C
ENST00000698868.1:c.1653G>C	ENSP00000513994.1:p.Trp551Cys
ENST00000698869.1:c.1554G>C	ENSP00000513995.1:p.Trp518Cys
ENST00000698870.1:c.1788G>C	ENSP00000513996.1:p.Trp596Cys
ENST00000698871.1:n.2311G>C
ENST00000698872.1:c.*577G>C	ENSP00000513997.1:n.*577G>C
ENST00000698873.1:c.*983G>C	ENSP00000513998.1:n.*983G>C
ENST00000698874.1:c.1248G>C	ENSP00000513999.1:p.Trp416Cys
ENST00000698875.1:n.1648G>C
ENST00000698876.1:n.1836G>C
ENST00000698877.1:n.1356G>C
ENST00000698878.1:c.1782G>C	ENSP00000514000.1:p.Trp594Cys
ENST00000698880.1:c.1656G>C
ENST00000345728.10:c.1788G>C MANE Select	ENSP00000339950.5:p.Trp596Cys
ENST00000279227.9:c.1800G>C	ENSP00000279227.5:p.Trp600Cys
ENST00000345728.9:c.1788G>C	ENSP00000339950.5:p.Trp596Cys
ENST00000545896.1:c.351G>C	ENSP00000440209.1:p.Trp117Cys
NM_031471.5:c.1788G>C	NP_113659.3:p.Trp596Cys
NM_178443.2:c.1800G>C , LRG_180t1:c.1800G>C	NP_848537.1:p.Trp600Cys
XM_011545294.1:c.1800G>C	XP_011543596.1:p.Trp600Cys
XM_011545295.1:c.1260G>C	XP_011543597.1:p.Trp420Cys
XM_011545296.1:c.1260G>C	XP_011543598.1:p.Trp420Cys
XM_011545294.3:c.1800G>C	XP_011543596.1:p.Trp600Cys
XM_011545295.2:c.1260G>C	XP_011543597.1:p.Trp420Cys
XM_017018398.2:c.1788G>C	XP_016873887.1:p.Trp596Cys
XM_017018399.1:c.1248G>C	XP_016873888.1:p.Trp416Cys
NM_031471.6:c.1788G>C MANE Select	NP_113659.3:p.Trp596Cys
NM_001382361.1:c.1788G>C	NP_001369290.1:p.Trp596Cys
NM_001382362.1:c.1800G>C	NP_001369291.1:p.Trp600Cys
NM_001382363.1:c.1248G>C	NP_001369292.1:p.Trp416Cys
NM_001382364.1:c.1260G>C	NP_001369293.1:p.Trp420Cys
NM_001382448.1:c.1788G>C	NP_001369377.1:p.Trp596Cys
NM_178443.3:c.1800G>C	NP_848537.1:p.Trp600Cys