Canonical Allele Identifier: CA381090050

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63990636G>T (hg19) ; chr11:g.64223164G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223164G>T , CM000673.2:g.64223164G>T	GRCh38
NC_000011.9:g.63990636G>T , CM000673.1:g.63990636G>T	GRCh37
NC_000011.8:g.63747212G>T	NCBI36
NG_016360.1:g.21485G>T , LRG_180:g.21485G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1799G>T	ENSP00000279227.5:p.Trp600Leu
ENST00000540554.2:n.3311G>T
ENST00000541252.2:c.1247G>T	ENSP00000438885.2:p.Trp416Leu
ENST00000544997.6:c.1787G>T	ENSP00000445778.2:p.Trp596Leu
ENST00000545896.2:c.351G>T	ENSP00000440209.2:p.Val117=
ENST00000546255.2:n.2091G>T
ENST00000698845.1:c.*982G>T	ENSP00000513981.1:n.*982G>T
ENST00000698846.1:n.2033G>T
ENST00000698847.1:c.*1192G>T	ENSP00000513982.1:n.*1192G>T
ENST00000698850.1:n.3808G>T
ENST00000698852.1:c.1787G>T	ENSP00000513984.1:p.Trp596Leu
ENST00000698853.1:c.*1016G>T	ENSP00000513985.1:n.*1016G>T
ENST00000698854.1:c.*1117G>T	ENSP00000513986.1:n.*1117G>T
ENST00000698855.1:n.3439G>T
ENST00000698856.1:n.3133G>T
ENST00000698859.1:n.2297G>T
ENST00000698860.1:c.1799G>T	ENSP00000513988.1:p.Trp600Leu
ENST00000698861.1:c.1787G>T	ENSP00000513989.1:p.Trp596Leu
ENST00000698862.1:c.*1083G>T	ENSP00000513990.1:n.*1083G>T
ENST00000698863.1:c.1787G>T	ENSP00000513991.1:p.Trp596Leu
ENST00000698864.1:n.2348G>T
ENST00000698865.1:c.1808G>T	ENSP00000513992.1:p.Trp603Leu
ENST00000698866.1:c.*1575G>T	ENSP00000513993.1:n.*1575G>T
ENST00000698867.1:n.5762G>T
ENST00000698868.1:c.1652G>T	ENSP00000513994.1:p.Trp551Leu
ENST00000698869.1:c.1553G>T	ENSP00000513995.1:p.Trp518Leu
ENST00000698870.1:c.1787G>T	ENSP00000513996.1:p.Trp596Leu
ENST00000698871.1:n.2310G>T
ENST00000698872.1:c.*576G>T	ENSP00000513997.1:n.*576G>T
ENST00000698873.1:c.*982G>T	ENSP00000513998.1:n.*982G>T
ENST00000698874.1:c.1247G>T	ENSP00000513999.1:p.Trp416Leu
ENST00000698875.1:n.1647G>T
ENST00000698876.1:n.1835G>T
ENST00000698877.1:n.1355G>T
ENST00000698878.1:c.1781G>T	ENSP00000514000.1:p.Trp594Leu
ENST00000698880.1:c.1655G>T
ENST00000345728.10:c.1787G>T MANE Select	ENSP00000339950.5:p.Trp596Leu
ENST00000279227.9:c.1799G>T	ENSP00000279227.5:p.Trp600Leu
ENST00000345728.9:c.1787G>T	ENSP00000339950.5:p.Trp596Leu
ENST00000545896.1:c.350G>T	ENSP00000440209.1:p.Trp117Leu
NM_031471.5:c.1787G>T	NP_113659.3:p.Trp596Leu
NM_178443.2:c.1799G>T , LRG_180t1:c.1799G>T	NP_848537.1:p.Trp600Leu
XM_011545294.1:c.1799G>T	XP_011543596.1:p.Trp600Leu
XM_011545295.1:c.1259G>T	XP_011543597.1:p.Trp420Leu
XM_011545296.1:c.1259G>T	XP_011543598.1:p.Trp420Leu
XM_011545294.3:c.1799G>T	XP_011543596.1:p.Trp600Leu
XM_011545295.2:c.1259G>T	XP_011543597.1:p.Trp420Leu
XM_017018398.2:c.1787G>T	XP_016873887.1:p.Trp596Leu
XM_017018399.1:c.1247G>T	XP_016873888.1:p.Trp416Leu
NM_031471.6:c.1787G>T MANE Select	NP_113659.3:p.Trp596Leu
NM_001382361.1:c.1787G>T	NP_001369290.1:p.Trp596Leu
NM_001382362.1:c.1799G>T	NP_001369291.1:p.Trp600Leu
NM_001382363.1:c.1247G>T	NP_001369292.1:p.Trp416Leu
NM_001382364.1:c.1259G>T	NP_001369293.1:p.Trp420Leu
NM_001382448.1:c.1787G>T	NP_001369377.1:p.Trp596Leu
NM_178443.3:c.1799G>T	NP_848537.1:p.Trp600Leu