Canonical Allele Identifier: CA381089938

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63990619C>A (hg19) ; chr11:g.64223147C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223147C>A , CM000673.2:g.64223147C>A	GRCh38
NC_000011.9:g.63990619C>A , CM000673.1:g.63990619C>A	GRCh37
NC_000011.8:g.63747195C>A	NCBI36
NG_016360.1:g.21468C>A , LRG_180:g.21468C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1782C>A	ENSP00000279227.5:p.Phe594Leu
ENST00000540554.2:n.3294C>A
ENST00000541252.2:c.1230C>A	ENSP00000438885.2:p.Phe410Leu
ENST00000544997.6:c.1770C>A	ENSP00000445778.2:p.Phe590Leu
ENST00000545896.2:c.334C>A	ENSP00000440209.2:p.Gln112Lys
ENST00000546255.2:n.2074C>A
ENST00000698845.1:c.*965C>A	ENSP00000513981.1:n.*965C>A
ENST00000698846.1:n.2016C>A
ENST00000698847.1:c.*1175C>A	ENSP00000513982.1:n.*1175C>A
ENST00000698850.1:n.3791C>A
ENST00000698852.1:c.1770C>A	ENSP00000513984.1:p.Phe590Leu
ENST00000698853.1:c.*999C>A	ENSP00000513985.1:n.*999C>A
ENST00000698854.1:c.*1100C>A	ENSP00000513986.1:n.*1100C>A
ENST00000698855.1:n.3422C>A
ENST00000698856.1:n.3116C>A
ENST00000698859.1:n.2280C>A
ENST00000698860.1:c.1782C>A	ENSP00000513988.1:p.Phe594Leu
ENST00000698861.1:c.1770C>A	ENSP00000513989.1:p.Phe590Leu
ENST00000698862.1:c.*1066C>A	ENSP00000513990.1:n.*1066C>A
ENST00000698863.1:c.1770C>A	ENSP00000513991.1:p.Phe590Leu
ENST00000698864.1:n.2331C>A
ENST00000698865.1:c.1791C>A	ENSP00000513992.1:p.Phe597Leu
ENST00000698866.1:c.*1558C>A	ENSP00000513993.1:n.*1558C>A
ENST00000698867.1:n.5745C>A
ENST00000698868.1:c.1635C>A	ENSP00000513994.1:p.Phe545Leu
ENST00000698869.1:c.1536C>A	ENSP00000513995.1:p.Phe512Leu
ENST00000698870.1:c.1770C>A	ENSP00000513996.1:p.Phe590Leu
ENST00000698871.1:n.2293C>A
ENST00000698872.1:c.*559C>A	ENSP00000513997.1:n.*559C>A
ENST00000698873.1:c.*965C>A	ENSP00000513998.1:n.*965C>A
ENST00000698874.1:c.1230C>A	ENSP00000513999.1:p.Phe410Leu
ENST00000698875.1:n.1630C>A
ENST00000698876.1:n.1818C>A
ENST00000698877.1:n.1338C>A
ENST00000698878.1:c.1764C>A	ENSP00000514000.1:p.Phe588Leu
ENST00000698880.1:c.1638C>A
ENST00000345728.10:c.1770C>A MANE Select	ENSP00000339950.5:p.Phe590Leu
ENST00000279227.9:c.1782C>A	ENSP00000279227.5:p.Phe594Leu
ENST00000345728.9:c.1770C>A	ENSP00000339950.5:p.Phe590Leu
ENST00000545896.1:c.333C>A	ENSP00000440209.1:p.Phe111Leu
NM_031471.5:c.1770C>A	NP_113659.3:p.Phe590Leu
NM_178443.2:c.1782C>A , LRG_180t1:c.1782C>A	NP_848537.1:p.Phe594Leu
XM_011545294.1:c.1782C>A	XP_011543596.1:p.Phe594Leu
XM_011545295.1:c.1242C>A	XP_011543597.1:p.Phe414Leu
XM_011545296.1:c.1242C>A	XP_011543598.1:p.Phe414Leu
XM_011545294.3:c.1782C>A	XP_011543596.1:p.Phe594Leu
XM_011545295.2:c.1242C>A	XP_011543597.1:p.Phe414Leu
XM_017018398.2:c.1770C>A	XP_016873887.1:p.Phe590Leu
XM_017018399.1:c.1230C>A	XP_016873888.1:p.Phe410Leu
NM_031471.6:c.1770C>A MANE Select	NP_113659.3:p.Phe590Leu
NM_001382361.1:c.1770C>A	NP_001369290.1:p.Phe590Leu
NM_001382362.1:c.1782C>A	NP_001369291.1:p.Phe594Leu
NM_001382363.1:c.1230C>A	NP_001369292.1:p.Phe410Leu
NM_001382364.1:c.1242C>A	NP_001369293.1:p.Phe414Leu
NM_001382448.1:c.1770C>A	NP_001369377.1:p.Phe590Leu
NM_178443.3:c.1782C>A	NP_848537.1:p.Phe594Leu