Canonical Allele Identifier: CA381087077

Gene: FERMT3

Linked Data

• dbSNP Id: rs1946649867
• gnomAD v3: 11-64220267-A-G
• gnomAD v4: 11-64220267-A-G
• MyVariant Identifiers: chr11:g.63987739A>G (hg19) ; chr11:g.64220267A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220267A>G , CM000673.2:g.64220267A>G	GRCh38
NC_000011.9:g.63987739A>G , CM000673.1:g.63987739A>G	GRCh37
NC_000011.8:g.63744315A>G	NCBI36
NG_016360.1:g.18588A>G , LRG_180:g.18588A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1264A>G	ENSP00000279227.5:p.Ile422Val
ENST00000540554.2:n.2321A>G
ENST00000541252.2:c.712A>G	ENSP00000438885.2:p.Ile238Val
ENST00000541326.6:n.564A>G
ENST00000544997.6:c.1252A>G	ENSP00000445778.2:p.Ile418Val
ENST00000546255.2:n.1447A>G
ENST00000698845.1:c.*447A>G	ENSP00000513981.1:n.*447A>G
ENST00000698846.1:n.1389A>G
ENST00000698847.1:c.*657A>G	ENSP00000513982.1:n.*657A>G
ENST00000698848.1:n.441A>G
ENST00000698849.1:n.372A>G
ENST00000698850.1:n.911A>G
ENST00000698852.1:c.1252A>G	ENSP00000513984.1:p.Ile418Val
ENST00000698853.1:c.*481A>G	ENSP00000513985.1:n.*481A>G
ENST00000698854.1:c.*582A>G	ENSP00000513986.1:n.*582A>G
ENST00000698855.1:n.2904A>G
ENST00000698856.1:n.2489A>G
ENST00000698859.1:n.1416A>G
ENST00000698860.1:c.1264A>G	ENSP00000513988.1:p.Ile422Val
ENST00000698861.1:c.1252A>G	ENSP00000513989.1:p.Ile418Val
ENST00000698862.1:c.*548A>G	ENSP00000513990.1:n.*548A>G
ENST00000698863.1:c.1252A>G	ENSP00000513991.1:p.Ile418Val
ENST00000698864.1:n.1358A>G
ENST00000698865.1:c.1273A>G	ENSP00000513992.1:p.Ile425Val
ENST00000698866.1:c.*657A>G	ENSP00000513993.1:n.*657A>G
ENST00000698867.1:n.5227A>G
ENST00000698868.1:c.1117A>G	ENSP00000513994.1:p.Ile373Val
ENST00000698869.1:c.1252A>G	ENSP00000513995.1:p.Ile418Val
ENST00000698870.1:c.1252A>G	ENSP00000513996.1:p.Ile418Val
ENST00000698871.1:n.1775A>G
ENST00000698872.1:c.*41A>G	ENSP00000513997.1:n.*41A>G
ENST00000698873.1:c.*447A>G	ENSP00000513998.1:n.*447A>G
ENST00000698874.1:c.712A>G	ENSP00000513999.1:p.Ile238Val
ENST00000698875.1:n.1112A>G
ENST00000698876.1:n.1191A>G
ENST00000698877.1:n.820A>G
ENST00000698878.1:c.1252A>G	ENSP00000514000.1:p.Ile418Val
ENST00000698880.1:c.1092A>G
ENST00000345728.10:c.1252A>G MANE Select	ENSP00000339950.5:p.Ile418Val
ENST00000279227.9:c.1264A>G	ENSP00000279227.5:p.Ile422Val
ENST00000345728.9:c.1252A>G	ENSP00000339950.5:p.Ile418Val
ENST00000540957.1:n.405A>G
ENST00000541326.5:n.559A>G
NM_031471.5:c.1252A>G	NP_113659.3:p.Ile418Val
NM_178443.2:c.1264A>G , LRG_180t1:c.1264A>G	NP_848537.1:p.Ile422Val
XM_011545294.1:c.1264A>G	XP_011543596.1:p.Ile422Val
XM_011545295.1:c.724A>G	XP_011543597.1:p.Ile242Val
XM_011545296.1:c.724A>G	XP_011543598.1:p.Ile242Val
XM_011545294.3:c.1264A>G	XP_011543596.1:p.Ile422Val
XM_011545295.2:c.724A>G	XP_011543597.1:p.Ile242Val
XM_017018398.2:c.1252A>G	XP_016873887.1:p.Ile418Val
XM_017018399.1:c.712A>G	XP_016873888.1:p.Ile238Val
NM_031471.6:c.1252A>G MANE Select	NP_113659.3:p.Ile418Val
NM_001382361.1:c.1252A>G	NP_001369290.1:p.Ile418Val
NM_001382362.1:c.1264A>G	NP_001369291.1:p.Ile422Val
NM_001382363.1:c.712A>G	NP_001369292.1:p.Ile238Val
NM_001382364.1:c.724A>G	NP_001369293.1:p.Ile242Val
NM_001382448.1:c.1252A>G	NP_001369377.1:p.Ile418Val
NM_178443.3:c.1264A>G	NP_848537.1:p.Ile422Val