Canonical Allele Identifier: CA223846128

Gene: FERMT3

Linked Data

• dbSNP Id: rs567812970
• gnomAD v2: 11-63988122-G-A
• gnomAD v3: 11-64220650-G-A
• gnomAD v4: 11-64220650-G-A
• MyVariant Identifiers: chr11:g.63988122G>A (hg19) ; chr11:g.64220650G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220650G>A , CM000673.2:g.64220650G>A	GRCh38
NC_000011.9:g.63988122G>A , CM000673.1:g.63988122G>A	GRCh37
NC_000011.8:g.63744698G>A	NCBI36
NG_016360.1:g.18971G>A , LRG_180:g.18971G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1538G>A	ENSP00000279227.5:p.Arg513Gln
ENST00000540554.2:n.2704G>A
ENST00000541252.2:c.986G>A	ENSP00000438885.2:p.Arg329Gln
ENST00000541326.6:n.947G>A
ENST00000544997.6:c.1526G>A	ENSP00000445778.2:p.Arg509Gln
ENST00000545896.2:c.215G>A	ENSP00000440209.2:p.Arg72Gln
ENST00000546255.2:n.1830G>A
ENST00000698845.1:c.*721G>A	ENSP00000513981.1:n.*721G>A
ENST00000698846.1:n.1772G>A
ENST00000698847.1:c.*931G>A	ENSP00000513982.1:n.*931G>A
ENST00000698849.1:n.646G>A
ENST00000698850.1:n.1294G>A
ENST00000698852.1:c.1526G>A	ENSP00000513984.1:p.Arg509Gln
ENST00000698853.1:c.*755G>A	ENSP00000513985.1:n.*755G>A
ENST00000698854.1:c.*856G>A	ENSP00000513986.1:n.*856G>A
ENST00000698855.1:n.3178G>A
ENST00000698856.1:n.2872G>A
ENST00000698859.1:n.1690G>A
ENST00000698860.1:c.1538G>A	ENSP00000513988.1:p.Arg513Gln
ENST00000698861.1:c.1526G>A	ENSP00000513989.1:p.Arg509Gln
ENST00000698862.1:c.*822G>A	ENSP00000513990.1:n.*822G>A
ENST00000698863.1:c.1526G>A	ENSP00000513991.1:p.Arg509Gln
ENST00000698864.1:n.1741G>A
ENST00000698865.1:c.1547G>A	ENSP00000513992.1:p.Arg516Gln
ENST00000698866.1:c.*1040G>A	ENSP00000513993.1:n.*1040G>A
ENST00000698867.1:n.5501G>A
ENST00000698868.1:c.1391G>A	ENSP00000513994.1:p.Arg464Gln
ENST00000698869.1:c.1311+324G>A	ENSP00000513995.1:n.1311+324G>A
ENST00000698870.1:c.1526G>A	ENSP00000513996.1:p.Arg509Gln
ENST00000698871.1:n.2049G>A
ENST00000698872.1:c.*315G>A	ENSP00000513997.1:n.*315G>A
ENST00000698873.1:c.*721G>A	ENSP00000513998.1:n.*721G>A
ENST00000698874.1:c.986G>A	ENSP00000513999.1:p.Arg329Gln
ENST00000698875.1:n.1386G>A
ENST00000698876.1:n.1574G>A
ENST00000698877.1:n.1094G>A
ENST00000698878.1:c.1520G>A	ENSP00000514000.1:p.Arg507Gln
ENST00000698880.1:c.1394G>A
ENST00000345728.10:c.1526G>A MANE Select	ENSP00000339950.5:p.Arg509Gln
ENST00000279227.9:c.1538G>A	ENSP00000279227.5:p.Arg513Gln
ENST00000345728.9:c.1526G>A	ENSP00000339950.5:p.Arg509Gln
ENST00000545896.1:c.214G>A	ENSP00000440209.1:p.Glu72Lys
NM_031471.5:c.1526G>A	NP_113659.3:p.Arg509Gln
NM_178443.2:c.1538G>A , LRG_180t1:c.1538G>A	NP_848537.1:p.Arg513Gln
XM_011545294.1:c.1538G>A	XP_011543596.1:p.Arg513Gln
XM_011545295.1:c.998G>A	XP_011543597.1:p.Arg333Gln
XM_011545296.1:c.998G>A	XP_011543598.1:p.Arg333Gln
XM_011545294.3:c.1538G>A	XP_011543596.1:p.Arg513Gln
XM_011545295.2:c.998G>A	XP_011543597.1:p.Arg333Gln
XM_017018398.2:c.1526G>A	XP_016873887.1:p.Arg509Gln
XM_017018399.1:c.986G>A	XP_016873888.1:p.Arg329Gln
NM_031471.6:c.1526G>A MANE Select	NP_113659.3:p.Arg509Gln
NM_001382361.1:c.1526G>A	NP_001369290.1:p.Arg509Gln
NM_001382362.1:c.1538G>A	NP_001369291.1:p.Arg513Gln
NM_001382363.1:c.986G>A	NP_001369292.1:p.Arg329Gln
NM_001382364.1:c.998G>A	NP_001369293.1:p.Arg333Gln
NM_001382448.1:c.1526G>A	NP_001369377.1:p.Arg509Gln
NM_178443.3:c.1538G>A	NP_848537.1:p.Arg513Gln