Canonical Allele Identifier: CA6069158

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 2484748
• ClinVar RCV Id: RCV003200315
• dbSNP Id: rs540846591
• ExAC: 11:63988025 C / T
• gnomAD v2: 11-63988025-C-T
• gnomAD v3: 11-64220553-C-T
• gnomAD v4: 11-64220553-C-T
• MyVariant Identifiers: chr11:g.63988025C>T (hg19) ; chr11:g.64220553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220553C>T , CM000673.2:g.64220553C>T	GRCh38
NC_000011.9:g.63988025C>T , CM000673.1:g.63988025C>T	GRCh37
NC_000011.8:g.63744601C>T	NCBI36
NG_016360.1:g.18874C>T , LRG_180:g.18874C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1441C>T	ENSP00000279227.5:p.Arg481Cys
ENST00000540554.2:n.2607C>T
ENST00000541252.2:c.889C>T	ENSP00000438885.2:p.Arg297Cys
ENST00000541326.6:n.850C>T
ENST00000544997.6:c.1429C>T	ENSP00000445778.2:p.Arg477Cys
ENST00000545896.2:c.118C>T	ENSP00000440209.2:p.Arg40Cys
ENST00000546255.2:n.1733C>T
ENST00000698845.1:c.*624C>T	ENSP00000513981.1:n.*624C>T
ENST00000698846.1:n.1675C>T
ENST00000698847.1:c.*834C>T	ENSP00000513982.1:n.*834C>T
ENST00000698849.1:n.549C>T
ENST00000698850.1:n.1197C>T
ENST00000698852.1:c.1429C>T	ENSP00000513984.1:p.Arg477Cys
ENST00000698853.1:c.*658C>T	ENSP00000513985.1:n.*658C>T
ENST00000698854.1:c.*759C>T	ENSP00000513986.1:n.*759C>T
ENST00000698855.1:n.3081C>T
ENST00000698856.1:n.2775C>T
ENST00000698859.1:n.1593C>T
ENST00000698860.1:c.1441C>T	ENSP00000513988.1:p.Arg481Cys
ENST00000698861.1:c.1429C>T	ENSP00000513989.1:p.Arg477Cys
ENST00000698862.1:c.*725C>T	ENSP00000513990.1:n.*725C>T
ENST00000698863.1:c.1429C>T	ENSP00000513991.1:p.Arg477Cys
ENST00000698864.1:n.1644C>T
ENST00000698865.1:c.1450C>T	ENSP00000513992.1:p.Arg484Cys
ENST00000698866.1:c.*943C>T	ENSP00000513993.1:n.*943C>T
ENST00000698867.1:n.5404C>T
ENST00000698868.1:c.1294C>T	ENSP00000513994.1:p.Arg432Cys
ENST00000698869.1:c.1311+227C>T	ENSP00000513995.1:n.1311+227C>T
ENST00000698870.1:c.1429C>T	ENSP00000513996.1:p.Arg477Cys
ENST00000698871.1:n.1952C>T
ENST00000698872.1:c.*218C>T	ENSP00000513997.1:n.*218C>T
ENST00000698873.1:c.*624C>T	ENSP00000513998.1:n.*624C>T
ENST00000698874.1:c.889C>T	ENSP00000513999.1:p.Arg297Cys
ENST00000698875.1:n.1289C>T
ENST00000698876.1:n.1477C>T
ENST00000698877.1:n.997C>T
ENST00000698878.1:c.1423C>T	ENSP00000514000.1:p.Arg475Cys
ENST00000698880.1:c.1297C>T
ENST00000345728.10:c.1429C>T MANE Select	ENSP00000339950.5:p.Arg477Cys
ENST00000279227.9:c.1441C>T	ENSP00000279227.5:p.Arg481Cys
ENST00000345728.9:c.1429C>T	ENSP00000339950.5:p.Arg477Cys
ENST00000541326.5:n.845C>T
ENST00000545896.1:c.117C>T	ENSP00000440209.1:p.Ser39=
NM_031471.5:c.1429C>T	NP_113659.3:p.Arg477Cys
NM_178443.2:c.1441C>T , LRG_180t1:c.1441C>T	NP_848537.1:p.Arg481Cys
XM_011545294.1:c.1441C>T	XP_011543596.1:p.Arg481Cys
XM_011545295.1:c.901C>T	XP_011543597.1:p.Arg301Cys
XM_011545296.1:c.901C>T	XP_011543598.1:p.Arg301Cys
XM_011545294.3:c.1441C>T	XP_011543596.1:p.Arg481Cys
XM_011545295.2:c.901C>T	XP_011543597.1:p.Arg301Cys
XM_017018398.2:c.1429C>T	XP_016873887.1:p.Arg477Cys
XM_017018399.1:c.889C>T	XP_016873888.1:p.Arg297Cys
NM_031471.6:c.1429C>T MANE Select	NP_113659.3:p.Arg477Cys
NM_001382361.1:c.1429C>T	NP_001369290.1:p.Arg477Cys
NM_001382362.1:c.1441C>T	NP_001369291.1:p.Arg481Cys
NM_001382363.1:c.889C>T	NP_001369292.1:p.Arg297Cys
NM_001382364.1:c.901C>T	NP_001369293.1:p.Arg301Cys
NM_001382448.1:c.1429C>T	NP_001369377.1:p.Arg477Cys
NM_178443.3:c.1441C>T	NP_848537.1:p.Arg481Cys