Canonical Allele Identifier: CA381087726

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63988005T>A (hg19) ; chr11:g.64220533T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220533T>A , CM000673.2:g.64220533T>A	GRCh38
NC_000011.9:g.63988005T>A , CM000673.1:g.63988005T>A	GRCh37
NC_000011.8:g.63744581T>A	NCBI36
NG_016360.1:g.18854T>A , LRG_180:g.18854T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1421T>A	ENSP00000279227.5:p.Leu474Gln
ENST00000540554.2:n.2587T>A
ENST00000541252.2:c.869T>A	ENSP00000438885.2:p.Leu290Gln
ENST00000541326.6:n.830T>A
ENST00000544997.6:c.1409T>A	ENSP00000445778.2:p.Leu470Gln
ENST00000545896.2:c.98T>A	ENSP00000440209.2:p.Leu33Gln
ENST00000546255.2:n.1713T>A
ENST00000698845.1:c.*604T>A	ENSP00000513981.1:n.*604T>A
ENST00000698846.1:n.1655T>A
ENST00000698847.1:c.*814T>A	ENSP00000513982.1:n.*814T>A
ENST00000698849.1:n.529T>A
ENST00000698850.1:n.1177T>A
ENST00000698852.1:c.1409T>A	ENSP00000513984.1:p.Leu470Gln
ENST00000698853.1:c.*638T>A	ENSP00000513985.1:n.*638T>A
ENST00000698854.1:c.*739T>A	ENSP00000513986.1:n.*739T>A
ENST00000698855.1:n.3061T>A
ENST00000698856.1:n.2755T>A
ENST00000698859.1:n.1573T>A
ENST00000698860.1:c.1421T>A	ENSP00000513988.1:p.Leu474Gln
ENST00000698861.1:c.1409T>A	ENSP00000513989.1:p.Leu470Gln
ENST00000698862.1:c.*705T>A	ENSP00000513990.1:n.*705T>A
ENST00000698863.1:c.1409T>A	ENSP00000513991.1:p.Leu470Gln
ENST00000698864.1:n.1624T>A
ENST00000698865.1:c.1430T>A	ENSP00000513992.1:p.Leu477Gln
ENST00000698866.1:c.*923T>A	ENSP00000513993.1:n.*923T>A
ENST00000698867.1:n.5384T>A
ENST00000698868.1:c.1274T>A	ENSP00000513994.1:p.Leu425Gln
ENST00000698869.1:c.1311+207T>A	ENSP00000513995.1:n.1311+207T>A
ENST00000698870.1:c.1409T>A	ENSP00000513996.1:p.Leu470Gln
ENST00000698871.1:n.1932T>A
ENST00000698872.1:c.*198T>A	ENSP00000513997.1:n.*198T>A
ENST00000698873.1:c.*604T>A	ENSP00000513998.1:n.*604T>A
ENST00000698874.1:c.869T>A	ENSP00000513999.1:p.Leu290Gln
ENST00000698875.1:n.1269T>A
ENST00000698876.1:n.1457T>A
ENST00000698877.1:n.977T>A
ENST00000698878.1:c.1403T>A	ENSP00000514000.1:p.Leu468Gln
ENST00000698880.1:c.1277T>A
ENST00000345728.10:c.1409T>A MANE Select	ENSP00000339950.5:p.Leu470Gln
ENST00000279227.9:c.1421T>A	ENSP00000279227.5:p.Leu474Gln
ENST00000345728.9:c.1409T>A	ENSP00000339950.5:p.Leu470Gln
ENST00000541326.5:n.825T>A
ENST00000545896.1:c.97T>A	ENSP00000440209.1:p.Trp33Arg
NM_031471.5:c.1409T>A	NP_113659.3:p.Leu470Gln
NM_178443.2:c.1421T>A , LRG_180t1:c.1421T>A	NP_848537.1:p.Leu474Gln
XM_011545294.1:c.1421T>A	XP_011543596.1:p.Leu474Gln
XM_011545295.1:c.881T>A	XP_011543597.1:p.Leu294Gln
XM_011545296.1:c.881T>A	XP_011543598.1:p.Leu294Gln
XM_011545294.3:c.1421T>A	XP_011543596.1:p.Leu474Gln
XM_011545295.2:c.881T>A	XP_011543597.1:p.Leu294Gln
XM_017018398.2:c.1409T>A	XP_016873887.1:p.Leu470Gln
XM_017018399.1:c.869T>A	XP_016873888.1:p.Leu290Gln
NM_031471.6:c.1409T>A MANE Select	NP_113659.3:p.Leu470Gln
NM_001382361.1:c.1409T>A	NP_001369290.1:p.Leu470Gln
NM_001382362.1:c.1421T>A	NP_001369291.1:p.Leu474Gln
NM_001382363.1:c.869T>A	NP_001369292.1:p.Leu290Gln
NM_001382364.1:c.881T>A	NP_001369293.1:p.Leu294Gln
NM_001382448.1:c.1409T>A	NP_001369377.1:p.Leu470Gln
NM_178443.3:c.1421T>A	NP_848537.1:p.Leu474Gln