Canonical Allele Identifier: CA381087830

Gene: FERMT3

Linked Data

• dbSNP Id: rs199749996
• gnomAD v4: 11-64220554-G-T
• MyVariant Identifiers: chr11:g.63988026G>T (hg19) ; chr11:g.64220554G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220554G>T , CM000673.2:g.64220554G>T	GRCh38
NC_000011.9:g.63988026G>T , CM000673.1:g.63988026G>T	GRCh37
NC_000011.8:g.63744602G>T	NCBI36
NG_016360.1:g.18875G>T , LRG_180:g.18875G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1442G>T	ENSP00000279227.5:p.Arg481Leu
ENST00000540554.2:n.2608G>T
ENST00000541252.2:c.890G>T	ENSP00000438885.2:p.Arg297Leu
ENST00000541326.6:n.851G>T
ENST00000544997.6:c.1430G>T	ENSP00000445778.2:p.Arg477Leu
ENST00000545896.2:c.119G>T	ENSP00000440209.2:p.Arg40Leu
ENST00000546255.2:n.1734G>T
ENST00000698845.1:c.*625G>T	ENSP00000513981.1:n.*625G>T
ENST00000698846.1:n.1676G>T
ENST00000698847.1:c.*835G>T	ENSP00000513982.1:n.*835G>T
ENST00000698849.1:n.550G>T
ENST00000698850.1:n.1198G>T
ENST00000698852.1:c.1430G>T	ENSP00000513984.1:p.Arg477Leu
ENST00000698853.1:c.*659G>T	ENSP00000513985.1:n.*659G>T
ENST00000698854.1:c.*760G>T	ENSP00000513986.1:n.*760G>T
ENST00000698855.1:n.3082G>T
ENST00000698856.1:n.2776G>T
ENST00000698859.1:n.1594G>T
ENST00000698860.1:c.1442G>T	ENSP00000513988.1:p.Arg481Leu
ENST00000698861.1:c.1430G>T	ENSP00000513989.1:p.Arg477Leu
ENST00000698862.1:c.*726G>T	ENSP00000513990.1:n.*726G>T
ENST00000698863.1:c.1430G>T	ENSP00000513991.1:p.Arg477Leu
ENST00000698864.1:n.1645G>T
ENST00000698865.1:c.1451G>T	ENSP00000513992.1:p.Arg484Leu
ENST00000698866.1:c.*944G>T	ENSP00000513993.1:n.*944G>T
ENST00000698867.1:n.5405G>T
ENST00000698868.1:c.1295G>T	ENSP00000513994.1:p.Arg432Leu
ENST00000698869.1:c.1311+228G>T	ENSP00000513995.1:n.1311+228G>T
ENST00000698870.1:c.1430G>T	ENSP00000513996.1:p.Arg477Leu
ENST00000698871.1:n.1953G>T
ENST00000698872.1:c.*219G>T	ENSP00000513997.1:n.*219G>T
ENST00000698873.1:c.*625G>T	ENSP00000513998.1:n.*625G>T
ENST00000698874.1:c.890G>T	ENSP00000513999.1:p.Arg297Leu
ENST00000698875.1:n.1290G>T
ENST00000698876.1:n.1478G>T
ENST00000698877.1:n.998G>T
ENST00000698878.1:c.1424G>T	ENSP00000514000.1:p.Arg475Leu
ENST00000698880.1:c.1298G>T
ENST00000345728.10:c.1430G>T MANE Select	ENSP00000339950.5:p.Arg477Leu
ENST00000279227.9:c.1442G>T	ENSP00000279227.5:p.Arg481Leu
ENST00000345728.9:c.1430G>T	ENSP00000339950.5:p.Arg477Leu
ENST00000541326.5:n.846G>T
ENST00000545896.1:c.118G>T	ENSP00000440209.1:p.Ala40Ser
NM_031471.5:c.1430G>T	NP_113659.3:p.Arg477Leu
NM_178443.2:c.1442G>T , LRG_180t1:c.1442G>T	NP_848537.1:p.Arg481Leu
XM_011545294.1:c.1442G>T	XP_011543596.1:p.Arg481Leu
XM_011545295.1:c.902G>T	XP_011543597.1:p.Arg301Leu
XM_011545296.1:c.902G>T	XP_011543598.1:p.Arg301Leu
XM_011545294.3:c.1442G>T	XP_011543596.1:p.Arg481Leu
XM_011545295.2:c.902G>T	XP_011543597.1:p.Arg301Leu
XM_017018398.2:c.1430G>T	XP_016873887.1:p.Arg477Leu
XM_017018399.1:c.890G>T	XP_016873888.1:p.Arg297Leu
NM_031471.6:c.1430G>T MANE Select	NP_113659.3:p.Arg477Leu
NM_001382361.1:c.1430G>T	NP_001369290.1:p.Arg477Leu
NM_001382362.1:c.1442G>T	NP_001369291.1:p.Arg481Leu
NM_001382363.1:c.890G>T	NP_001369292.1:p.Arg297Leu
NM_001382364.1:c.902G>T	NP_001369293.1:p.Arg301Leu
NM_001382448.1:c.1430G>T	NP_001369377.1:p.Arg477Leu
NM_178443.3:c.1442G>T	NP_848537.1:p.Arg481Leu