Canonical Allele Identifier: CA381087875

Gene: FERMT3

Linked Data

• gnomAD v3: 11-64220565-G-A
• gnomAD v4: 11-64220565-G-A
• MyVariant Identifiers: chr11:g.63988037G>A (hg19) ; chr11:g.64220565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220565G>A , CM000673.2:g.64220565G>A	GRCh38
NC_000011.9:g.63988037G>A , CM000673.1:g.63988037G>A	GRCh37
NC_000011.8:g.63744613G>A	NCBI36
NG_016360.1:g.18886G>A , LRG_180:g.18886G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1453G>A	ENSP00000279227.5:p.Gly485Arg
ENST00000540554.2:n.2619G>A
ENST00000541252.2:c.901G>A	ENSP00000438885.2:p.Gly301Arg
ENST00000541326.6:n.862G>A
ENST00000544997.6:c.1441G>A	ENSP00000445778.2:p.Gly481Arg
ENST00000545896.2:c.130G>A	ENSP00000440209.2:p.Gly44Arg
ENST00000546255.2:n.1745G>A
ENST00000698845.1:c.*636G>A	ENSP00000513981.1:n.*636G>A
ENST00000698846.1:n.1687G>A
ENST00000698847.1:c.*846G>A	ENSP00000513982.1:n.*846G>A
ENST00000698849.1:n.561G>A
ENST00000698850.1:n.1209G>A
ENST00000698852.1:c.1441G>A	ENSP00000513984.1:p.Gly481Arg
ENST00000698853.1:c.*670G>A	ENSP00000513985.1:n.*670G>A
ENST00000698854.1:c.*771G>A	ENSP00000513986.1:n.*771G>A
ENST00000698855.1:n.3093G>A
ENST00000698856.1:n.2787G>A
ENST00000698859.1:n.1605G>A
ENST00000698860.1:c.1453G>A	ENSP00000513988.1:p.Gly485Arg
ENST00000698861.1:c.1441G>A	ENSP00000513989.1:p.Gly481Arg
ENST00000698862.1:c.*737G>A	ENSP00000513990.1:n.*737G>A
ENST00000698863.1:c.1441G>A	ENSP00000513991.1:p.Gly481Arg
ENST00000698864.1:n.1656G>A
ENST00000698865.1:c.1462G>A	ENSP00000513992.1:p.Gly488Arg
ENST00000698866.1:c.*955G>A	ENSP00000513993.1:n.*955G>A
ENST00000698867.1:n.5416G>A
ENST00000698868.1:c.1306G>A	ENSP00000513994.1:p.Gly436Arg
ENST00000698869.1:c.1311+239G>A	ENSP00000513995.1:n.1311+239G>A
ENST00000698870.1:c.1441G>A	ENSP00000513996.1:p.Gly481Arg
ENST00000698871.1:n.1964G>A
ENST00000698872.1:c.*230G>A	ENSP00000513997.1:n.*230G>A
ENST00000698873.1:c.*636G>A	ENSP00000513998.1:n.*636G>A
ENST00000698874.1:c.901G>A	ENSP00000513999.1:p.Gly301Arg
ENST00000698875.1:n.1301G>A
ENST00000698876.1:n.1489G>A
ENST00000698877.1:n.1009G>A
ENST00000698878.1:c.1435G>A	ENSP00000514000.1:p.Gly479Arg
ENST00000698880.1:c.1309G>A
ENST00000345728.10:c.1441G>A MANE Select	ENSP00000339950.5:p.Gly481Arg
ENST00000279227.9:c.1453G>A	ENSP00000279227.5:p.Gly485Arg
ENST00000345728.9:c.1441G>A	ENSP00000339950.5:p.Gly481Arg
ENST00000541326.5:n.857G>A
ENST00000545896.1:c.129G>A	ENSP00000440209.1:p.Val43=
NM_031471.5:c.1441G>A	NP_113659.3:p.Gly481Arg
NM_178443.2:c.1453G>A , LRG_180t1:c.1453G>A	NP_848537.1:p.Gly485Arg
XM_011545294.1:c.1453G>A	XP_011543596.1:p.Gly485Arg
XM_011545295.1:c.913G>A	XP_011543597.1:p.Gly305Arg
XM_011545296.1:c.913G>A	XP_011543598.1:p.Gly305Arg
XM_011545294.3:c.1453G>A	XP_011543596.1:p.Gly485Arg
XM_011545295.2:c.913G>A	XP_011543597.1:p.Gly305Arg
XM_017018398.2:c.1441G>A	XP_016873887.1:p.Gly481Arg
XM_017018399.1:c.901G>A	XP_016873888.1:p.Gly301Arg
NM_031471.6:c.1441G>A MANE Select	NP_113659.3:p.Gly481Arg
NM_001382361.1:c.1441G>A	NP_001369290.1:p.Gly481Arg
NM_001382362.1:c.1453G>A	NP_001369291.1:p.Gly485Arg
NM_001382363.1:c.901G>A	NP_001369292.1:p.Gly301Arg
NM_001382364.1:c.913G>A	NP_001369293.1:p.Gly305Arg
NM_001382448.1:c.1441G>A	NP_001369377.1:p.Gly481Arg
NM_178443.3:c.1453G>A	NP_848537.1:p.Gly485Arg