Canonical Allele Identifier: CA381088514

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220658-A-G
• MyVariant Identifiers: chr11:g.63988130A>G (hg19) ; chr11:g.64220658A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220658A>G , CM000673.2:g.64220658A>G	GRCh38
NC_000011.9:g.63988130A>G , CM000673.1:g.63988130A>G	GRCh37
NC_000011.8:g.63744706A>G	NCBI36
NG_016360.1:g.18979A>G , LRG_180:g.18979A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1546A>G	ENSP00000279227.5:p.Lys516Glu
ENST00000540554.2:n.2712A>G
ENST00000541252.2:c.994A>G	ENSP00000438885.2:p.Lys332Glu
ENST00000541326.6:n.955A>G
ENST00000544997.6:c.1534A>G	ENSP00000445778.2:p.Lys512Glu
ENST00000545896.2:c.223A>G	ENSP00000440209.2:p.Lys75Glu
ENST00000546255.2:n.1838A>G
ENST00000698845.1:c.*729A>G	ENSP00000513981.1:n.*729A>G
ENST00000698846.1:n.1780A>G
ENST00000698847.1:c.*939A>G	ENSP00000513982.1:n.*939A>G
ENST00000698849.1:n.654A>G
ENST00000698850.1:n.1302A>G
ENST00000698852.1:c.1534A>G	ENSP00000513984.1:p.Lys512Glu
ENST00000698853.1:c.*763A>G	ENSP00000513985.1:n.*763A>G
ENST00000698854.1:c.*864A>G	ENSP00000513986.1:n.*864A>G
ENST00000698855.1:n.3186A>G
ENST00000698856.1:n.2880A>G
ENST00000698859.1:n.1698A>G
ENST00000698860.1:c.1546A>G	ENSP00000513988.1:p.Lys516Glu
ENST00000698861.1:c.1534A>G	ENSP00000513989.1:p.Lys512Glu
ENST00000698862.1:c.*830A>G	ENSP00000513990.1:n.*830A>G
ENST00000698863.1:c.1534A>G	ENSP00000513991.1:p.Lys512Glu
ENST00000698864.1:n.1749A>G
ENST00000698865.1:c.1555A>G	ENSP00000513992.1:p.Lys519Glu
ENST00000698866.1:c.*1048A>G	ENSP00000513993.1:n.*1048A>G
ENST00000698867.1:n.5509A>G
ENST00000698868.1:c.1399A>G	ENSP00000513994.1:p.Lys467Glu
ENST00000698869.1:c.1311+332A>G	ENSP00000513995.1:n.1311+332A>G
ENST00000698870.1:c.1534A>G	ENSP00000513996.1:p.Lys512Glu
ENST00000698871.1:n.2057A>G
ENST00000698872.1:c.*323A>G	ENSP00000513997.1:n.*323A>G
ENST00000698873.1:c.*729A>G	ENSP00000513998.1:n.*729A>G
ENST00000698874.1:c.994A>G	ENSP00000513999.1:p.Lys332Glu
ENST00000698875.1:n.1394A>G
ENST00000698876.1:n.1582A>G
ENST00000698877.1:n.1102A>G
ENST00000698878.1:c.1528A>G	ENSP00000514000.1:p.Lys510Glu
ENST00000698880.1:c.1402A>G
ENST00000345728.10:c.1534A>G MANE Select	ENSP00000339950.5:p.Lys512Glu
ENST00000279227.9:c.1546A>G	ENSP00000279227.5:p.Lys516Glu
ENST00000345728.9:c.1534A>G	ENSP00000339950.5:p.Lys512Glu
ENST00000545896.1:c.222A>G	ENSP00000440209.1:p.Ser74=
NM_031471.5:c.1534A>G	NP_113659.3:p.Lys512Glu
NM_178443.2:c.1546A>G , LRG_180t1:c.1546A>G	NP_848537.1:p.Lys516Glu
XM_011545294.1:c.1546A>G	XP_011543596.1:p.Lys516Glu
XM_011545295.1:c.1006A>G	XP_011543597.1:p.Lys336Glu
XM_011545296.1:c.1006A>G	XP_011543598.1:p.Lys336Glu
XM_011545294.3:c.1546A>G	XP_011543596.1:p.Lys516Glu
XM_011545295.2:c.1006A>G	XP_011543597.1:p.Lys336Glu
XM_017018398.2:c.1534A>G	XP_016873887.1:p.Lys512Glu
XM_017018399.1:c.994A>G	XP_016873888.1:p.Lys332Glu
NM_031471.6:c.1534A>G MANE Select	NP_113659.3:p.Lys512Glu
NM_001382361.1:c.1534A>G	NP_001369290.1:p.Lys512Glu
NM_001382362.1:c.1546A>G	NP_001369291.1:p.Lys516Glu
NM_001382363.1:c.994A>G	NP_001369292.1:p.Lys332Glu
NM_001382364.1:c.1006A>G	NP_001369293.1:p.Lys336Glu
NM_001382448.1:c.1534A>G	NP_001369377.1:p.Lys512Glu
NM_178443.3:c.1546A>G	NP_848537.1:p.Lys516Glu