Canonical Allele Identifier: CA381089724

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64223104-G-T
• COSMIC: COSM3986333 ; COSM3986334
• MyVariant Identifiers: chr11:g.63990576G>T (hg19) ; chr11:g.64223104G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223104G>T , CM000673.2:g.64223104G>T	GRCh38
NC_000011.9:g.63990576G>T , CM000673.1:g.63990576G>T	GRCh37
NC_000011.8:g.63747152G>T	NCBI36
NG_016360.1:g.21425G>T , LRG_180:g.21425G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1739G>T	ENSP00000279227.5:p.Arg580Leu
ENST00000540554.2:n.3251G>T
ENST00000541252.2:c.1187G>T	ENSP00000438885.2:p.Arg396Leu
ENST00000544997.6:c.1727G>T	ENSP00000445778.2:p.Arg576Leu
ENST00000545896.2:c.291G>T	ENSP00000440209.2:p.Pro97=
ENST00000546255.2:n.2031G>T
ENST00000698845.1:c.*922G>T	ENSP00000513981.1:n.*922G>T
ENST00000698846.1:n.1973G>T
ENST00000698847.1:c.*1132G>T	ENSP00000513982.1:n.*1132G>T
ENST00000698850.1:n.3748G>T
ENST00000698852.1:c.1727G>T	ENSP00000513984.1:p.Arg576Leu
ENST00000698853.1:c.*956G>T	ENSP00000513985.1:n.*956G>T
ENST00000698854.1:c.*1057G>T	ENSP00000513986.1:n.*1057G>T
ENST00000698855.1:n.3379G>T
ENST00000698856.1:n.3073G>T
ENST00000698859.1:n.2237G>T
ENST00000698860.1:c.1739G>T	ENSP00000513988.1:p.Arg580Leu
ENST00000698861.1:c.1727G>T	ENSP00000513989.1:p.Arg576Leu
ENST00000698862.1:c.*1023G>T	ENSP00000513990.1:n.*1023G>T
ENST00000698863.1:c.1727G>T	ENSP00000513991.1:p.Arg576Leu
ENST00000698864.1:n.2288G>T
ENST00000698865.1:c.1748G>T	ENSP00000513992.1:p.Arg583Leu
ENST00000698866.1:c.*1515G>T	ENSP00000513993.1:n.*1515G>T
ENST00000698867.1:n.5702G>T
ENST00000698868.1:c.1592G>T	ENSP00000513994.1:p.Arg531Leu
ENST00000698869.1:c.1493G>T	ENSP00000513995.1:p.Arg498Leu
ENST00000698870.1:c.1727G>T	ENSP00000513996.1:p.Arg576Leu
ENST00000698871.1:n.2250G>T
ENST00000698872.1:c.*516G>T	ENSP00000513997.1:n.*516G>T
ENST00000698873.1:c.*922G>T	ENSP00000513998.1:n.*922G>T
ENST00000698874.1:c.1187G>T	ENSP00000513999.1:p.Arg396Leu
ENST00000698875.1:n.1587G>T
ENST00000698876.1:n.1775G>T
ENST00000698877.1:n.1295G>T
ENST00000698878.1:c.1721G>T	ENSP00000514000.1:p.Arg574Leu
ENST00000698880.1:c.1595G>T
ENST00000345728.10:c.1727G>T MANE Select	ENSP00000339950.5:p.Arg576Leu
ENST00000279227.9:c.1739G>T	ENSP00000279227.5:p.Arg580Leu
ENST00000345728.9:c.1727G>T	ENSP00000339950.5:p.Arg576Leu
ENST00000540554.1:n.363G>T
ENST00000545896.1:c.290G>T	ENSP00000440209.1:p.Arg97Leu
NM_031471.5:c.1727G>T	NP_113659.3:p.Arg576Leu
NM_178443.2:c.1739G>T , LRG_180t1:c.1739G>T	NP_848537.1:p.Arg580Leu
XM_011545294.1:c.1739G>T	XP_011543596.1:p.Arg580Leu
XM_011545295.1:c.1199G>T	XP_011543597.1:p.Arg400Leu
XM_011545296.1:c.1199G>T	XP_011543598.1:p.Arg400Leu
XM_011545294.3:c.1739G>T	XP_011543596.1:p.Arg580Leu
XM_011545295.2:c.1199G>T	XP_011543597.1:p.Arg400Leu
XM_017018398.2:c.1727G>T	XP_016873887.1:p.Arg576Leu
XM_017018399.1:c.1187G>T	XP_016873888.1:p.Arg396Leu
NM_031471.6:c.1727G>T MANE Select	NP_113659.3:p.Arg576Leu
NM_001382361.1:c.1727G>T	NP_001369290.1:p.Arg576Leu
NM_001382362.1:c.1739G>T	NP_001369291.1:p.Arg580Leu
NM_001382363.1:c.1187G>T	NP_001369292.1:p.Arg396Leu
NM_001382364.1:c.1199G>T	NP_001369293.1:p.Arg400Leu
NM_001382448.1:c.1727G>T	NP_001369377.1:p.Arg576Leu
NM_178443.3:c.1739G>T	NP_848537.1:p.Arg580Leu