Canonical Allele Identifier: CA6069269

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 1355374
• ClinVar RCV Id: RCV001876485
• dbSNP Id: rs775250461
• ExAC: 11:63990575 C / T
• gnomAD v2: 11-63990575-C-T
• gnomAD v3: 11-64223103-C-T
• gnomAD v4: 11-64223103-C-T
• COSMIC: COSM544313 ; COSM544314
• MyVariant Identifiers: chr11:g.63990575C>T (hg19) ; chr11:g.64223103C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223103C>T , CM000673.2:g.64223103C>T	GRCh38
NC_000011.9:g.63990575C>T , CM000673.1:g.63990575C>T	GRCh37
NC_000011.8:g.63747151C>T	NCBI36
NG_016360.1:g.21424C>T , LRG_180:g.21424C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1738C>T	ENSP00000279227.5:p.Arg580Cys
ENST00000540554.2:n.3250C>T
ENST00000541252.2:c.1186C>T	ENSP00000438885.2:p.Arg396Cys
ENST00000544997.6:c.1726C>T	ENSP00000445778.2:p.Arg576Cys
ENST00000545896.2:c.290C>T	ENSP00000440209.2:p.Pro97Leu
ENST00000546255.2:n.2030C>T
ENST00000698845.1:c.*921C>T	ENSP00000513981.1:n.*921C>T
ENST00000698846.1:n.1972C>T
ENST00000698847.1:c.*1131C>T	ENSP00000513982.1:n.*1131C>T
ENST00000698850.1:n.3747C>T
ENST00000698852.1:c.1726C>T	ENSP00000513984.1:p.Arg576Cys
ENST00000698853.1:c.*955C>T	ENSP00000513985.1:n.*955C>T
ENST00000698854.1:c.*1056C>T	ENSP00000513986.1:n.*1056C>T
ENST00000698855.1:n.3378C>T
ENST00000698856.1:n.3072C>T
ENST00000698859.1:n.2236C>T
ENST00000698860.1:c.1738C>T	ENSP00000513988.1:p.Arg580Cys
ENST00000698861.1:c.1726C>T	ENSP00000513989.1:p.Arg576Cys
ENST00000698862.1:c.*1022C>T	ENSP00000513990.1:n.*1022C>T
ENST00000698863.1:c.1726C>T	ENSP00000513991.1:p.Arg576Cys
ENST00000698864.1:n.2287C>T
ENST00000698865.1:c.1747C>T	ENSP00000513992.1:p.Arg583Cys
ENST00000698866.1:c.*1514C>T	ENSP00000513993.1:n.*1514C>T
ENST00000698867.1:n.5701C>T
ENST00000698868.1:c.1591C>T	ENSP00000513994.1:p.Arg531Cys
ENST00000698869.1:c.1492C>T	ENSP00000513995.1:p.Arg498Cys
ENST00000698870.1:c.1726C>T	ENSP00000513996.1:p.Arg576Cys
ENST00000698871.1:n.2249C>T
ENST00000698872.1:c.*515C>T	ENSP00000513997.1:n.*515C>T
ENST00000698873.1:c.*921C>T	ENSP00000513998.1:n.*921C>T
ENST00000698874.1:c.1186C>T	ENSP00000513999.1:p.Arg396Cys
ENST00000698875.1:n.1586C>T
ENST00000698876.1:n.1774C>T
ENST00000698877.1:n.1294C>T
ENST00000698878.1:c.1720C>T	ENSP00000514000.1:p.Arg574Cys
ENST00000698880.1:c.1594C>T
ENST00000345728.10:c.1726C>T MANE Select	ENSP00000339950.5:p.Arg576Cys
ENST00000279227.9:c.1738C>T	ENSP00000279227.5:p.Arg580Cys
ENST00000345728.9:c.1726C>T	ENSP00000339950.5:p.Arg576Cys
ENST00000540554.1:n.362C>T
ENST00000545896.1:c.289C>T	ENSP00000440209.1:p.Arg97Cys
NM_031471.5:c.1726C>T	NP_113659.3:p.Arg576Cys
NM_178443.2:c.1738C>T , LRG_180t1:c.1738C>T	NP_848537.1:p.Arg580Cys
XM_011545294.1:c.1738C>T	XP_011543596.1:p.Arg580Cys
XM_011545295.1:c.1198C>T	XP_011543597.1:p.Arg400Cys
XM_011545296.1:c.1198C>T	XP_011543598.1:p.Arg400Cys
XM_011545294.3:c.1738C>T	XP_011543596.1:p.Arg580Cys
XM_011545295.2:c.1198C>T	XP_011543597.1:p.Arg400Cys
XM_017018398.2:c.1726C>T	XP_016873887.1:p.Arg576Cys
XM_017018399.1:c.1186C>T	XP_016873888.1:p.Arg396Cys
NM_031471.6:c.1726C>T MANE Select	NP_113659.3:p.Arg576Cys
NM_001382361.1:c.1726C>T	NP_001369290.1:p.Arg576Cys
NM_001382362.1:c.1738C>T	NP_001369291.1:p.Arg580Cys
NM_001382363.1:c.1186C>T	NP_001369292.1:p.Arg396Cys
NM_001382364.1:c.1198C>T	NP_001369293.1:p.Arg400Cys
NM_001382448.1:c.1726C>T	NP_001369377.1:p.Arg576Cys
NM_178443.3:c.1738C>T	NP_848537.1:p.Arg580Cys