Canonical Allele Identifier: CA381089922

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 2005138
• ClinVar RCV Id: RCV002828460
• MyVariant Identifiers: chr11:g.63990615G>T (hg19) ; chr11:g.64223143G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223143G>T , CM000673.2:g.64223143G>T	GRCh38
NC_000011.9:g.63990615G>T , CM000673.1:g.63990615G>T	GRCh37
NC_000011.8:g.63747191G>T	NCBI36
NG_016360.1:g.21464G>T , LRG_180:g.21464G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1778G>T	ENSP00000279227.5:p.Arg593Leu
ENST00000540554.2:n.3290G>T
ENST00000541252.2:c.1226G>T	ENSP00000438885.2:p.Arg409Leu
ENST00000544997.6:c.1766G>T	ENSP00000445778.2:p.Arg589Leu
ENST00000545896.2:c.330G>T	ENSP00000440209.2:p.Ala110=
ENST00000546255.2:n.2070G>T
ENST00000698845.1:c.*961G>T	ENSP00000513981.1:n.*961G>T
ENST00000698846.1:n.2012G>T
ENST00000698847.1:c.*1171G>T	ENSP00000513982.1:n.*1171G>T
ENST00000698850.1:n.3787G>T
ENST00000698852.1:c.1766G>T	ENSP00000513984.1:p.Arg589Leu
ENST00000698853.1:c.*995G>T	ENSP00000513985.1:n.*995G>T
ENST00000698854.1:c.*1096G>T	ENSP00000513986.1:n.*1096G>T
ENST00000698855.1:n.3418G>T
ENST00000698856.1:n.3112G>T
ENST00000698859.1:n.2276G>T
ENST00000698860.1:c.1778G>T	ENSP00000513988.1:p.Arg593Leu
ENST00000698861.1:c.1766G>T	ENSP00000513989.1:p.Arg589Leu
ENST00000698862.1:c.*1062G>T	ENSP00000513990.1:n.*1062G>T
ENST00000698863.1:c.1766G>T	ENSP00000513991.1:p.Arg589Leu
ENST00000698864.1:n.2327G>T
ENST00000698865.1:c.1787G>T	ENSP00000513992.1:p.Arg596Leu
ENST00000698866.1:c.*1554G>T	ENSP00000513993.1:n.*1554G>T
ENST00000698867.1:n.5741G>T
ENST00000698868.1:c.1631G>T	ENSP00000513994.1:p.Arg544Leu
ENST00000698869.1:c.1532G>T	ENSP00000513995.1:p.Arg511Leu
ENST00000698870.1:c.1766G>T	ENSP00000513996.1:p.Arg589Leu
ENST00000698871.1:n.2289G>T
ENST00000698872.1:c.*555G>T	ENSP00000513997.1:n.*555G>T
ENST00000698873.1:c.*961G>T	ENSP00000513998.1:n.*961G>T
ENST00000698874.1:c.1226G>T	ENSP00000513999.1:p.Arg409Leu
ENST00000698875.1:n.1626G>T
ENST00000698876.1:n.1814G>T
ENST00000698877.1:n.1334G>T
ENST00000698878.1:c.1760G>T	ENSP00000514000.1:p.Arg587Leu
ENST00000698880.1:c.1634G>T
ENST00000345728.10:c.1766G>T MANE Select	ENSP00000339950.5:p.Arg589Leu
ENST00000279227.9:c.1778G>T	ENSP00000279227.5:p.Arg593Leu
ENST00000345728.9:c.1766G>T	ENSP00000339950.5:p.Arg589Leu
ENST00000545896.1:c.329G>T	ENSP00000440209.1:p.Arg110Leu
NM_031471.5:c.1766G>T	NP_113659.3:p.Arg589Leu
NM_178443.2:c.1778G>T , LRG_180t1:c.1778G>T	NP_848537.1:p.Arg593Leu
XM_011545294.1:c.1778G>T	XP_011543596.1:p.Arg593Leu
XM_011545295.1:c.1238G>T	XP_011543597.1:p.Arg413Leu
XM_011545296.1:c.1238G>T	XP_011543598.1:p.Arg413Leu
XM_011545294.3:c.1778G>T	XP_011543596.1:p.Arg593Leu
XM_011545295.2:c.1238G>T	XP_011543597.1:p.Arg413Leu
XM_017018398.2:c.1766G>T	XP_016873887.1:p.Arg589Leu
XM_017018399.1:c.1226G>T	XP_016873888.1:p.Arg409Leu
NM_031471.6:c.1766G>T MANE Select	NP_113659.3:p.Arg589Leu
NM_001382361.1:c.1766G>T	NP_001369290.1:p.Arg589Leu
NM_001382362.1:c.1778G>T	NP_001369291.1:p.Arg593Leu
NM_001382363.1:c.1226G>T	NP_001369292.1:p.Arg409Leu
NM_001382364.1:c.1238G>T	NP_001369293.1:p.Arg413Leu
NM_001382448.1:c.1766G>T	NP_001369377.1:p.Arg589Leu
NM_178443.3:c.1778G>T	NP_848537.1:p.Arg593Leu