Canonical Allele Identifier: CA6069193

Gene: FERMT3

Linked Data

• dbSNP Id: rs755898664
• ExAC: 11:63988123 A / G
• gnomAD v2: 11-63988123-A-G
• gnomAD v4: 11-64220651-A-G
• COSMIC: COSM5519052 ; COSM5519053
• MyVariant Identifiers: chr11:g.63988123A>G (hg19) ; chr11:g.64220651A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220651A>G , CM000673.2:g.64220651A>G	GRCh38
NC_000011.9:g.63988123A>G , CM000673.1:g.63988123A>G	GRCh37
NC_000011.8:g.63744699A>G	NCBI36
NG_016360.1:g.18972A>G , LRG_180:g.18972A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1539A>G	ENSP00000279227.5:p.Arg513=
ENST00000540554.2:n.2705A>G
ENST00000541252.2:c.987A>G	ENSP00000438885.2:p.Arg329=
ENST00000541326.6:n.948A>G
ENST00000544997.6:c.1527A>G	ENSP00000445778.2:p.Arg509=
ENST00000545896.2:c.216A>G	ENSP00000440209.2:p.Arg72=
ENST00000546255.2:n.1831A>G
ENST00000698845.1:c.*722A>G	ENSP00000513981.1:n.*722A>G
ENST00000698846.1:n.1773A>G
ENST00000698847.1:c.*932A>G	ENSP00000513982.1:n.*932A>G
ENST00000698849.1:n.647A>G
ENST00000698850.1:n.1295A>G
ENST00000698852.1:c.1527A>G	ENSP00000513984.1:p.Arg509=
ENST00000698853.1:c.*756A>G	ENSP00000513985.1:n.*756A>G
ENST00000698854.1:c.*857A>G	ENSP00000513986.1:n.*857A>G
ENST00000698855.1:n.3179A>G
ENST00000698856.1:n.2873A>G
ENST00000698859.1:n.1691A>G
ENST00000698860.1:c.1539A>G	ENSP00000513988.1:p.Arg513=
ENST00000698861.1:c.1527A>G	ENSP00000513989.1:p.Arg509=
ENST00000698862.1:c.*823A>G	ENSP00000513990.1:n.*823A>G
ENST00000698863.1:c.1527A>G	ENSP00000513991.1:p.Arg509=
ENST00000698864.1:n.1742A>G
ENST00000698865.1:c.1548A>G	ENSP00000513992.1:p.Arg516=
ENST00000698866.1:c.*1041A>G	ENSP00000513993.1:n.*1041A>G
ENST00000698867.1:n.5502A>G
ENST00000698868.1:c.1392A>G	ENSP00000513994.1:p.Arg464=
ENST00000698869.1:c.1311+325A>G	ENSP00000513995.1:n.1311+325A>G
ENST00000698870.1:c.1527A>G	ENSP00000513996.1:p.Arg509=
ENST00000698871.1:n.2050A>G
ENST00000698872.1:c.*316A>G	ENSP00000513997.1:n.*316A>G
ENST00000698873.1:c.*722A>G	ENSP00000513998.1:n.*722A>G
ENST00000698874.1:c.987A>G	ENSP00000513999.1:p.Arg329=
ENST00000698875.1:n.1387A>G
ENST00000698876.1:n.1575A>G
ENST00000698877.1:n.1095A>G
ENST00000698878.1:c.1521A>G	ENSP00000514000.1:p.Arg507=
ENST00000698880.1:c.1395A>G
ENST00000345728.10:c.1527A>G MANE Select	ENSP00000339950.5:p.Arg509=
ENST00000279227.9:c.1539A>G	ENSP00000279227.5:p.Arg513=
ENST00000345728.9:c.1527A>G	ENSP00000339950.5:p.Arg509=
ENST00000545896.1:c.215A>G	ENSP00000440209.1:p.Glu72Gly
NM_031471.5:c.1527A>G	NP_113659.3:p.Arg509=
NM_178443.2:c.1539A>G , LRG_180t1:c.1539A>G	NP_848537.1:p.Arg513=
XM_011545294.1:c.1539A>G	XP_011543596.1:p.Arg513=
XM_011545295.1:c.999A>G	XP_011543597.1:p.Arg333=
XM_011545296.1:c.999A>G	XP_011543598.1:p.Arg333=
XM_011545294.3:c.1539A>G	XP_011543596.1:p.Arg513=
XM_011545295.2:c.999A>G	XP_011543597.1:p.Arg333=
XM_017018398.2:c.1527A>G	XP_016873887.1:p.Arg509=
XM_017018399.1:c.987A>G	XP_016873888.1:p.Arg329=
NM_031471.6:c.1527A>G MANE Select	NP_113659.3:p.Arg509=
NM_001382361.1:c.1527A>G	NP_001369290.1:p.Arg509=
NM_001382362.1:c.1539A>G	NP_001369291.1:p.Arg513=
NM_001382363.1:c.987A>G	NP_001369292.1:p.Arg329=
NM_001382364.1:c.999A>G	NP_001369293.1:p.Arg333=
NM_001382448.1:c.1527A>G	NP_001369377.1:p.Arg509=
NM_178443.3:c.1539A>G	NP_848537.1:p.Arg513=