Canonical Allele Identifier: CA381089876

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64223137-C-G
• MyVariant Identifiers: chr11:g.63990609C>G (hg19) ; chr11:g.64223137C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223137C>G , CM000673.2:g.64223137C>G	GRCh38
NC_000011.9:g.63990609C>G , CM000673.1:g.63990609C>G	GRCh37
NC_000011.8:g.63747185C>G	NCBI36
NG_016360.1:g.21458C>G , LRG_180:g.21458C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1772C>G	ENSP00000279227.5:p.Thr591Ser
ENST00000540554.2:n.3284C>G
ENST00000541252.2:c.1220C>G	ENSP00000438885.2:p.Thr407Ser
ENST00000544997.6:c.1760C>G	ENSP00000445778.2:p.Thr587Ser
ENST00000545896.2:c.324C>G	ENSP00000440209.2:p.Asp108Glu
ENST00000546255.2:n.2064C>G
ENST00000698845.1:c.*955C>G	ENSP00000513981.1:n.*955C>G
ENST00000698846.1:n.2006C>G
ENST00000698847.1:c.*1165C>G	ENSP00000513982.1:n.*1165C>G
ENST00000698850.1:n.3781C>G
ENST00000698852.1:c.1760C>G	ENSP00000513984.1:p.Thr587Ser
ENST00000698853.1:c.*989C>G	ENSP00000513985.1:n.*989C>G
ENST00000698854.1:c.*1090C>G	ENSP00000513986.1:n.*1090C>G
ENST00000698855.1:n.3412C>G
ENST00000698856.1:n.3106C>G
ENST00000698859.1:n.2270C>G
ENST00000698860.1:c.1772C>G	ENSP00000513988.1:p.Thr591Ser
ENST00000698861.1:c.1760C>G	ENSP00000513989.1:p.Thr587Ser
ENST00000698862.1:c.*1056C>G	ENSP00000513990.1:n.*1056C>G
ENST00000698863.1:c.1760C>G	ENSP00000513991.1:p.Thr587Ser
ENST00000698864.1:n.2321C>G
ENST00000698865.1:c.1781C>G	ENSP00000513992.1:p.Thr594Ser
ENST00000698866.1:c.*1548C>G	ENSP00000513993.1:n.*1548C>G
ENST00000698867.1:n.5735C>G
ENST00000698868.1:c.1625C>G	ENSP00000513994.1:p.Thr542Ser
ENST00000698869.1:c.1526C>G	ENSP00000513995.1:p.Thr509Ser
ENST00000698870.1:c.1760C>G	ENSP00000513996.1:p.Thr587Ser
ENST00000698871.1:n.2283C>G
ENST00000698872.1:c.*549C>G	ENSP00000513997.1:n.*549C>G
ENST00000698873.1:c.*955C>G	ENSP00000513998.1:n.*955C>G
ENST00000698874.1:c.1220C>G	ENSP00000513999.1:p.Thr407Ser
ENST00000698875.1:n.1620C>G
ENST00000698876.1:n.1808C>G
ENST00000698877.1:n.1328C>G
ENST00000698878.1:c.1754C>G	ENSP00000514000.1:p.Thr585Ser
ENST00000698880.1:c.1628C>G
ENST00000345728.10:c.1760C>G MANE Select	ENSP00000339950.5:p.Thr587Ser
ENST00000279227.9:c.1772C>G	ENSP00000279227.5:p.Thr591Ser
ENST00000345728.9:c.1760C>G	ENSP00000339950.5:p.Thr587Ser
ENST00000545896.1:c.323C>G	ENSP00000440209.1:p.Thr108Ser
NM_031471.5:c.1760C>G	NP_113659.3:p.Thr587Ser
NM_178443.2:c.1772C>G , LRG_180t1:c.1772C>G	NP_848537.1:p.Thr591Ser
XM_011545294.1:c.1772C>G	XP_011543596.1:p.Thr591Ser
XM_011545295.1:c.1232C>G	XP_011543597.1:p.Thr411Ser
XM_011545296.1:c.1232C>G	XP_011543598.1:p.Thr411Ser
XM_011545294.3:c.1772C>G	XP_011543596.1:p.Thr591Ser
XM_011545295.2:c.1232C>G	XP_011543597.1:p.Thr411Ser
XM_017018398.2:c.1760C>G	XP_016873887.1:p.Thr587Ser
XM_017018399.1:c.1220C>G	XP_016873888.1:p.Thr407Ser
NM_031471.6:c.1760C>G MANE Select	NP_113659.3:p.Thr587Ser
NM_001382361.1:c.1760C>G	NP_001369290.1:p.Thr587Ser
NM_001382362.1:c.1772C>G	NP_001369291.1:p.Thr591Ser
NM_001382363.1:c.1220C>G	NP_001369292.1:p.Thr407Ser
NM_001382364.1:c.1232C>G	NP_001369293.1:p.Thr411Ser
NM_001382448.1:c.1760C>G	NP_001369377.1:p.Thr587Ser
NM_178443.3:c.1772C>G	NP_848537.1:p.Thr591Ser