Canonical Allele Identifier: CA381087224

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220308-C-G
• MyVariant Identifiers: chr11:g.63987780C>G (hg19) ; chr11:g.64220308C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220308C>G , CM000673.2:g.64220308C>G	GRCh38
NC_000011.9:g.63987780C>G , CM000673.1:g.63987780C>G	GRCh37
NC_000011.8:g.63744356C>G	NCBI36
NG_016360.1:g.18629C>G , LRG_180:g.18629C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1305C>G	ENSP00000279227.5:p.Ile435Met
ENST00000540554.2:n.2362C>G
ENST00000541252.2:c.753C>G	ENSP00000438885.2:p.Ile251Met
ENST00000541326.6:n.605C>G
ENST00000544997.6:c.1293C>G	ENSP00000445778.2:p.Ile431Met
ENST00000546255.2:n.1488C>G
ENST00000698845.1:c.*488C>G	ENSP00000513981.1:n.*488C>G
ENST00000698846.1:n.1430C>G
ENST00000698847.1:c.*698C>G	ENSP00000513982.1:n.*698C>G
ENST00000698848.1:n.482C>G
ENST00000698849.1:n.413C>G
ENST00000698850.1:n.952C>G
ENST00000698852.1:c.1293C>G	ENSP00000513984.1:p.Ile431Met
ENST00000698853.1:c.*522C>G	ENSP00000513985.1:n.*522C>G
ENST00000698854.1:c.*623C>G	ENSP00000513986.1:n.*623C>G
ENST00000698855.1:n.2945C>G
ENST00000698856.1:n.2530C>G
ENST00000698859.1:n.1457C>G
ENST00000698860.1:c.1305C>G	ENSP00000513988.1:p.Ile435Met
ENST00000698861.1:c.1293C>G	ENSP00000513989.1:p.Ile431Met
ENST00000698862.1:c.*589C>G	ENSP00000513990.1:n.*589C>G
ENST00000698863.1:c.1293C>G	ENSP00000513991.1:p.Ile431Met
ENST00000698864.1:n.1399C>G
ENST00000698865.1:c.1314C>G	ENSP00000513992.1:p.Ile438Met
ENST00000698866.1:c.*698C>G	ENSP00000513993.1:n.*698C>G
ENST00000698867.1:n.5268C>G
ENST00000698868.1:c.1158C>G	ENSP00000513994.1:p.Ile386Met
ENST00000698869.1:c.1293C>G	ENSP00000513995.1:p.Ile431Met
ENST00000698870.1:c.1293C>G	ENSP00000513996.1:p.Ile431Met
ENST00000698871.1:n.1816C>G
ENST00000698872.1:c.*82C>G	ENSP00000513997.1:n.*82C>G
ENST00000698873.1:c.*488C>G	ENSP00000513998.1:n.*488C>G
ENST00000698874.1:c.753C>G	ENSP00000513999.1:p.Ile251Met
ENST00000698875.1:n.1153C>G
ENST00000698876.1:n.1232C>G
ENST00000698877.1:n.861C>G
ENST00000698878.1:c.1293C>G	ENSP00000514000.1:p.Ile431Met
ENST00000698880.1:c.1133C>G
ENST00000345728.10:c.1293C>G MANE Select	ENSP00000339950.5:p.Ile431Met
ENST00000279227.9:c.1305C>G	ENSP00000279227.5:p.Ile435Met
ENST00000345728.9:c.1293C>G	ENSP00000339950.5:p.Ile431Met
ENST00000540957.1:n.446C>G
ENST00000541326.5:n.600C>G
NM_031471.5:c.1293C>G	NP_113659.3:p.Ile431Met
NM_178443.2:c.1305C>G , LRG_180t1:c.1305C>G	NP_848537.1:p.Ile435Met
XM_011545294.1:c.1305C>G	XP_011543596.1:p.Ile435Met
XM_011545295.1:c.765C>G	XP_011543597.1:p.Ile255Met
XM_011545296.1:c.765C>G	XP_011543598.1:p.Ile255Met
XM_011545294.3:c.1305C>G	XP_011543596.1:p.Ile435Met
XM_011545295.2:c.765C>G	XP_011543597.1:p.Ile255Met
XM_017018398.2:c.1293C>G	XP_016873887.1:p.Ile431Met
XM_017018399.1:c.753C>G	XP_016873888.1:p.Ile251Met
NM_031471.6:c.1293C>G MANE Select	NP_113659.3:p.Ile431Met
NM_001382361.1:c.1293C>G	NP_001369290.1:p.Ile431Met
NM_001382362.1:c.1305C>G	NP_001369291.1:p.Ile435Met
NM_001382363.1:c.753C>G	NP_001369292.1:p.Ile251Met
NM_001382364.1:c.765C>G	NP_001369293.1:p.Ile255Met
NM_001382448.1:c.1293C>G	NP_001369377.1:p.Ile431Met
NM_178443.3:c.1305C>G	NP_848537.1:p.Ile435Met