Canonical Allele Identifier: CA381090151

Gene: FERMT3

Linked Data

• dbSNP Id: rs1476225927
• gnomAD v4: 11-64223181-A-G
• MyVariant Identifiers: chr11:g.63990653A>G (hg19) ; chr11:g.64223181A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223181A>G , CM000673.2:g.64223181A>G	GRCh38
NC_000011.9:g.63990653A>G , CM000673.1:g.63990653A>G	GRCh37
NC_000011.8:g.63747229A>G	NCBI36
NG_016360.1:g.21502A>G , LRG_180:g.21502A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1816A>G	ENSP00000279227.5:p.Ile606Val
ENST00000540554.2:n.3328A>G
ENST00000541252.2:c.1264A>G	ENSP00000438885.2:p.Ile422Val
ENST00000544997.6:c.1804A>G	ENSP00000445778.2:p.Ile602Val
ENST00000545896.2:c.368A>G	ENSP00000440209.2:p.His123Arg
ENST00000546255.2:n.2108A>G
ENST00000698845.1:c.*999A>G	ENSP00000513981.1:n.*999A>G
ENST00000698846.1:n.2050A>G
ENST00000698847.1:c.*1209A>G	ENSP00000513982.1:n.*1209A>G
ENST00000698850.1:n.3825A>G
ENST00000698852.1:c.1804A>G	ENSP00000513984.1:p.Ile602Val
ENST00000698853.1:c.*1033A>G	ENSP00000513985.1:n.*1033A>G
ENST00000698854.1:c.*1134A>G	ENSP00000513986.1:n.*1134A>G
ENST00000698855.1:n.3456A>G
ENST00000698856.1:n.3150A>G
ENST00000698859.1:n.2314A>G
ENST00000698860.1:c.1816A>G	ENSP00000513988.1:p.Ile606Val
ENST00000698861.1:c.1804A>G	ENSP00000513989.1:p.Ile602Val
ENST00000698862.1:c.*1100A>G	ENSP00000513990.1:n.*1100A>G
ENST00000698863.1:c.1804A>G	ENSP00000513991.1:p.Ile602Val
ENST00000698864.1:n.2365A>G
ENST00000698865.1:c.1825A>G	ENSP00000513992.1:p.Ile609Val
ENST00000698866.1:c.*1592A>G	ENSP00000513993.1:n.*1592A>G
ENST00000698867.1:n.5779A>G
ENST00000698868.1:c.1669A>G	ENSP00000513994.1:p.Ile557Val
ENST00000698869.1:c.1570A>G	ENSP00000513995.1:p.Ile524Val
ENST00000698870.1:c.1804A>G	ENSP00000513996.1:p.Ile602Val
ENST00000698871.1:n.2327A>G
ENST00000698872.1:c.*593A>G	ENSP00000513997.1:n.*593A>G
ENST00000698873.1:c.*999A>G	ENSP00000513998.1:n.*999A>G
ENST00000698874.1:c.1264A>G	ENSP00000513999.1:p.Ile422Val
ENST00000698875.1:n.1664A>G
ENST00000698876.1:n.1852A>G
ENST00000698877.1:n.1372A>G
ENST00000698878.1:c.1798A>G	ENSP00000514000.1:p.Ile600Val
ENST00000698880.1:c.1672A>G
ENST00000345728.10:c.1804A>G MANE Select	ENSP00000339950.5:p.Ile602Val
ENST00000279227.9:c.1816A>G	ENSP00000279227.5:p.Ile606Val
ENST00000345728.9:c.1804A>G	ENSP00000339950.5:p.Ile602Val
ENST00000545896.1:c.367A>G	ENSP00000440209.1:p.Ile123Val
NM_031471.5:c.1804A>G	NP_113659.3:p.Ile602Val
NM_178443.2:c.1816A>G , LRG_180t1:c.1816A>G	NP_848537.1:p.Ile606Val
XM_011545294.1:c.1816A>G	XP_011543596.1:p.Ile606Val
XM_011545295.1:c.1276A>G	XP_011543597.1:p.Ile426Val
XM_011545296.1:c.1276A>G	XP_011543598.1:p.Ile426Val
XM_011545294.3:c.1816A>G	XP_011543596.1:p.Ile606Val
XM_011545295.2:c.1276A>G	XP_011543597.1:p.Ile426Val
XM_017018398.2:c.1804A>G	XP_016873887.1:p.Ile602Val
XM_017018399.1:c.1264A>G	XP_016873888.1:p.Ile422Val
NM_031471.6:c.1804A>G MANE Select	NP_113659.3:p.Ile602Val
NM_001382361.1:c.1804A>G	NP_001369290.1:p.Ile602Val
NM_001382362.1:c.1816A>G	NP_001369291.1:p.Ile606Val
NM_001382363.1:c.1264A>G	NP_001369292.1:p.Ile422Val
NM_001382364.1:c.1276A>G	NP_001369293.1:p.Ile426Val
NM_001382448.1:c.1804A>G	NP_001369377.1:p.Ile602Val
NM_178443.3:c.1816A>G	NP_848537.1:p.Ile606Val