Canonical Allele Identifier: CA381088206

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63988086T>A (hg19) ; chr11:g.64220614T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220614T>A , CM000673.2:g.64220614T>A	GRCh38
NC_000011.9:g.63988086T>A , CM000673.1:g.63988086T>A	GRCh37
NC_000011.8:g.63744662T>A	NCBI36
NG_016360.1:g.18935T>A , LRG_180:g.18935T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1502T>A	ENSP00000279227.5:p.Leu501His
ENST00000540554.2:n.2668T>A
ENST00000541252.2:c.950T>A	ENSP00000438885.2:p.Leu317His
ENST00000541326.6:n.911T>A
ENST00000544997.6:c.1490T>A	ENSP00000445778.2:p.Leu497His
ENST00000545896.2:c.179T>A	ENSP00000440209.2:p.Leu60His
ENST00000546255.2:n.1794T>A
ENST00000698845.1:c.*685T>A	ENSP00000513981.1:n.*685T>A
ENST00000698846.1:n.1736T>A
ENST00000698847.1:c.*895T>A	ENSP00000513982.1:n.*895T>A
ENST00000698849.1:n.610T>A
ENST00000698850.1:n.1258T>A
ENST00000698852.1:c.1490T>A	ENSP00000513984.1:p.Leu497His
ENST00000698853.1:c.*719T>A	ENSP00000513985.1:n.*719T>A
ENST00000698854.1:c.*820T>A	ENSP00000513986.1:n.*820T>A
ENST00000698855.1:n.3142T>A
ENST00000698856.1:n.2836T>A
ENST00000698859.1:n.1654T>A
ENST00000698860.1:c.1502T>A	ENSP00000513988.1:p.Leu501His
ENST00000698861.1:c.1490T>A	ENSP00000513989.1:p.Leu497His
ENST00000698862.1:c.*786T>A	ENSP00000513990.1:n.*786T>A
ENST00000698863.1:c.1490T>A	ENSP00000513991.1:p.Leu497His
ENST00000698864.1:n.1705T>A
ENST00000698865.1:c.1511T>A	ENSP00000513992.1:p.Leu504His
ENST00000698866.1:c.*1004T>A	ENSP00000513993.1:n.*1004T>A
ENST00000698867.1:n.5465T>A
ENST00000698868.1:c.1355T>A	ENSP00000513994.1:p.Leu452His
ENST00000698869.1:c.1311+288T>A	ENSP00000513995.1:n.1311+288T>A
ENST00000698870.1:c.1490T>A	ENSP00000513996.1:p.Leu497His
ENST00000698871.1:n.2013T>A
ENST00000698872.1:c.*279T>A	ENSP00000513997.1:n.*279T>A
ENST00000698873.1:c.*685T>A	ENSP00000513998.1:n.*685T>A
ENST00000698874.1:c.950T>A	ENSP00000513999.1:p.Leu317His
ENST00000698875.1:n.1350T>A
ENST00000698876.1:n.1538T>A
ENST00000698877.1:n.1058T>A
ENST00000698878.1:c.1484T>A	ENSP00000514000.1:p.Leu495His
ENST00000698880.1:c.1358T>A
ENST00000345728.10:c.1490T>A MANE Select	ENSP00000339950.5:p.Leu497His
ENST00000279227.9:c.1502T>A	ENSP00000279227.5:p.Leu501His
ENST00000345728.9:c.1490T>A	ENSP00000339950.5:p.Leu497His
ENST00000545896.1:c.178T>A	ENSP00000440209.1:p.Ser60Thr
NM_031471.5:c.1490T>A	NP_113659.3:p.Leu497His
NM_178443.2:c.1502T>A , LRG_180t1:c.1502T>A	NP_848537.1:p.Leu501His
XM_011545294.1:c.1502T>A	XP_011543596.1:p.Leu501His
XM_011545295.1:c.962T>A	XP_011543597.1:p.Leu321His
XM_011545296.1:c.962T>A	XP_011543598.1:p.Leu321His
XM_011545294.3:c.1502T>A	XP_011543596.1:p.Leu501His
XM_011545295.2:c.962T>A	XP_011543597.1:p.Leu321His
XM_017018398.2:c.1490T>A	XP_016873887.1:p.Leu497His
XM_017018399.1:c.950T>A	XP_016873888.1:p.Leu317His
NM_031471.6:c.1490T>A MANE Select	NP_113659.3:p.Leu497His
NM_001382361.1:c.1490T>A	NP_001369290.1:p.Leu497His
NM_001382362.1:c.1502T>A	NP_001369291.1:p.Leu501His
NM_001382363.1:c.950T>A	NP_001369292.1:p.Leu317His
NM_001382364.1:c.962T>A	NP_001369293.1:p.Leu321His
NM_001382448.1:c.1490T>A	NP_001369377.1:p.Leu497His
NM_178443.3:c.1502T>A	NP_848537.1:p.Leu501His