Canonical Allele Identifier: CA381089996

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63990628G>C (hg19) ; chr11:g.64223156G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223156G>C , CM000673.2:g.64223156G>C	GRCh38
NC_000011.9:g.63990628G>C , CM000673.1:g.63990628G>C	GRCh37
NC_000011.8:g.63747204G>C	NCBI36
NG_016360.1:g.21477G>C , LRG_180:g.21477G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1791G>C	ENSP00000279227.5:p.Met597Ile
ENST00000540554.2:n.3303G>C
ENST00000541252.2:c.1239G>C	ENSP00000438885.2:p.Met413Ile
ENST00000544997.6:c.1779G>C	ENSP00000445778.2:p.Met593Ile
ENST00000545896.2:c.343G>C	ENSP00000440209.2:p.Ala115Pro
ENST00000546255.2:n.2083G>C
ENST00000698845.1:c.*974G>C	ENSP00000513981.1:n.*974G>C
ENST00000698846.1:n.2025G>C
ENST00000698847.1:c.*1184G>C	ENSP00000513982.1:n.*1184G>C
ENST00000698850.1:n.3800G>C
ENST00000698852.1:c.1779G>C	ENSP00000513984.1:p.Met593Ile
ENST00000698853.1:c.*1008G>C	ENSP00000513985.1:n.*1008G>C
ENST00000698854.1:c.*1109G>C	ENSP00000513986.1:n.*1109G>C
ENST00000698855.1:n.3431G>C
ENST00000698856.1:n.3125G>C
ENST00000698859.1:n.2289G>C
ENST00000698860.1:c.1791G>C	ENSP00000513988.1:p.Met597Ile
ENST00000698861.1:c.1779G>C	ENSP00000513989.1:p.Met593Ile
ENST00000698862.1:c.*1075G>C	ENSP00000513990.1:n.*1075G>C
ENST00000698863.1:c.1779G>C	ENSP00000513991.1:p.Met593Ile
ENST00000698864.1:n.2340G>C
ENST00000698865.1:c.1800G>C	ENSP00000513992.1:p.Met600Ile
ENST00000698866.1:c.*1567G>C	ENSP00000513993.1:n.*1567G>C
ENST00000698867.1:n.5754G>C
ENST00000698868.1:c.1644G>C	ENSP00000513994.1:p.Met548Ile
ENST00000698869.1:c.1545G>C	ENSP00000513995.1:p.Met515Ile
ENST00000698870.1:c.1779G>C	ENSP00000513996.1:p.Met593Ile
ENST00000698871.1:n.2302G>C
ENST00000698872.1:c.*568G>C	ENSP00000513997.1:n.*568G>C
ENST00000698873.1:c.*974G>C	ENSP00000513998.1:n.*974G>C
ENST00000698874.1:c.1239G>C	ENSP00000513999.1:p.Met413Ile
ENST00000698875.1:n.1639G>C
ENST00000698876.1:n.1827G>C
ENST00000698877.1:n.1347G>C
ENST00000698878.1:c.1773G>C	ENSP00000514000.1:p.Met591Ile
ENST00000698880.1:c.1647G>C
ENST00000345728.10:c.1779G>C MANE Select	ENSP00000339950.5:p.Met593Ile
ENST00000279227.9:c.1791G>C	ENSP00000279227.5:p.Met597Ile
ENST00000345728.9:c.1779G>C	ENSP00000339950.5:p.Met593Ile
ENST00000545896.1:c.342G>C	ENSP00000440209.1:p.Met114Ile
NM_031471.5:c.1779G>C	NP_113659.3:p.Met593Ile
NM_178443.2:c.1791G>C , LRG_180t1:c.1791G>C	NP_848537.1:p.Met597Ile
XM_011545294.1:c.1791G>C	XP_011543596.1:p.Met597Ile
XM_011545295.1:c.1251G>C	XP_011543597.1:p.Met417Ile
XM_011545296.1:c.1251G>C	XP_011543598.1:p.Met417Ile
XM_011545294.3:c.1791G>C	XP_011543596.1:p.Met597Ile
XM_011545295.2:c.1251G>C	XP_011543597.1:p.Met417Ile
XM_017018398.2:c.1779G>C	XP_016873887.1:p.Met593Ile
XM_017018399.1:c.1239G>C	XP_016873888.1:p.Met413Ile
NM_031471.6:c.1779G>C MANE Select	NP_113659.3:p.Met593Ile
NM_001382361.1:c.1779G>C	NP_001369290.1:p.Met593Ile
NM_001382362.1:c.1791G>C	NP_001369291.1:p.Met597Ile
NM_001382363.1:c.1239G>C	NP_001369292.1:p.Met413Ile
NM_001382364.1:c.1251G>C	NP_001369293.1:p.Met417Ile
NM_001382448.1:c.1779G>C	NP_001369377.1:p.Met593Ile
NM_178443.3:c.1791G>C	NP_848537.1:p.Met597Ile