Canonical Allele Identifier: CA381088546

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63988141G>T (hg19) ; chr11:g.64220669G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220669G>T , CM000673.2:g.64220669G>T	GRCh38
NC_000011.9:g.63988141G>T , CM000673.1:g.63988141G>T	GRCh37
NC_000011.8:g.63744717G>T	NCBI36
NG_016360.1:g.18990G>T , LRG_180:g.18990G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1557G>T	ENSP00000279227.5:p.Gln519His
ENST00000540554.2:n.2723G>T
ENST00000541252.2:c.1005G>T	ENSP00000438885.2:p.Gln335His
ENST00000541326.6:n.966G>T
ENST00000544997.6:c.1545G>T	ENSP00000445778.2:p.Gln515His
ENST00000545896.2:c.234G>T	ENSP00000440209.2:p.Gln78His
ENST00000546255.2:n.1849G>T
ENST00000698845.1:c.*740G>T	ENSP00000513981.1:n.*740G>T
ENST00000698846.1:n.1791G>T
ENST00000698847.1:c.*950G>T	ENSP00000513982.1:n.*950G>T
ENST00000698850.1:n.1313G>T
ENST00000698852.1:c.1545G>T	ENSP00000513984.1:p.Gln515His
ENST00000698853.1:c.*774G>T	ENSP00000513985.1:n.*774G>T
ENST00000698854.1:c.*875G>T	ENSP00000513986.1:n.*875G>T
ENST00000698855.1:n.3197G>T
ENST00000698856.1:n.2891G>T
ENST00000698859.1:n.1709G>T
ENST00000698860.1:c.1557G>T	ENSP00000513988.1:p.Gln519His
ENST00000698861.1:c.1545G>T	ENSP00000513989.1:p.Gln515His
ENST00000698862.1:c.*841G>T	ENSP00000513990.1:n.*841G>T
ENST00000698863.1:c.1545G>T	ENSP00000513991.1:p.Gln515His
ENST00000698864.1:n.1760G>T
ENST00000698865.1:c.1566G>T	ENSP00000513992.1:p.Gln522His
ENST00000698866.1:c.*1059G>T	ENSP00000513993.1:n.*1059G>T
ENST00000698867.1:n.5520G>T
ENST00000698868.1:c.1410G>T	ENSP00000513994.1:p.Gln470His
ENST00000698869.1:c.1311+343G>T	ENSP00000513995.1:n.1311+343G>T
ENST00000698870.1:c.1545G>T	ENSP00000513996.1:p.Gln515His
ENST00000698871.1:n.2068G>T
ENST00000698872.1:c.*334G>T	ENSP00000513997.1:n.*334G>T
ENST00000698873.1:c.*740G>T	ENSP00000513998.1:n.*740G>T
ENST00000698874.1:c.1005G>T	ENSP00000513999.1:p.Gln335His
ENST00000698875.1:n.1405G>T
ENST00000698876.1:n.1593G>T
ENST00000698877.1:n.1113G>T
ENST00000698878.1:c.1539G>T	ENSP00000514000.1:p.Gln513His
ENST00000698880.1:c.1413G>T
ENST00000345728.10:c.1545G>T MANE Select	ENSP00000339950.5:p.Gln515His
ENST00000279227.9:c.1557G>T	ENSP00000279227.5:p.Gln519His
ENST00000345728.9:c.1545G>T	ENSP00000339950.5:p.Gln515His
ENST00000545896.1:c.233G>T	ENSP00000440209.1:p.Arg78Met
NM_031471.5:c.1545G>T	NP_113659.3:p.Gln515His
NM_178443.2:c.1557G>T , LRG_180t1:c.1557G>T	NP_848537.1:p.Gln519His
XM_011545294.1:c.1557G>T	XP_011543596.1:p.Gln519His
XM_011545295.1:c.1017G>T	XP_011543597.1:p.Gln339His
XM_011545296.1:c.1017G>T	XP_011543598.1:p.Gln339His
XM_011545294.3:c.1557G>T	XP_011543596.1:p.Gln519His
XM_011545295.2:c.1017G>T	XP_011543597.1:p.Gln339His
XM_017018398.2:c.1545G>T	XP_016873887.1:p.Gln515His
XM_017018399.1:c.1005G>T	XP_016873888.1:p.Gln335His
NM_031471.6:c.1545G>T MANE Select	NP_113659.3:p.Gln515His
NM_001382361.1:c.1545G>T	NP_001369290.1:p.Gln515His
NM_001382362.1:c.1557G>T	NP_001369291.1:p.Gln519His
NM_001382363.1:c.1005G>T	NP_001369292.1:p.Gln335His
NM_001382364.1:c.1017G>T	NP_001369293.1:p.Gln339His
NM_001382448.1:c.1545G>T	NP_001369377.1:p.Gln515His
NM_178443.3:c.1557G>T	NP_848537.1:p.Gln519His