Canonical Allele Identifier: CA6069093

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 1081967
• ClinVar RCV Id: RCV001398132
• dbSNP Id: rs187514956
• ExAC: 11:63987723 C / T
• gnomAD v2: 11-63987723-C-T
• gnomAD v3: 11-64220251-C-T
• gnomAD v4: 11-64220251-C-T
• MyVariant Identifiers: chr11:g.63987723C>T (hg19) ; chr11:g.64220251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220251C>T , CM000673.2:g.64220251C>T	GRCh38
NC_000011.9:g.63987723C>T , CM000673.1:g.63987723C>T	GRCh37
NC_000011.8:g.63744299C>T	NCBI36
NG_016360.1:g.18572C>T , LRG_180:g.18572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1248C>T	ENSP00000279227.5:p.Ser416=
ENST00000540554.2:n.2305C>T
ENST00000541252.2:c.696C>T	ENSP00000438885.2:p.Ser232=
ENST00000541326.6:n.548C>T
ENST00000544997.6:c.1236C>T	ENSP00000445778.2:p.Ser412=
ENST00000546255.2:n.1431C>T
ENST00000698845.1:c.*431C>T	ENSP00000513981.1:n.*431C>T
ENST00000698846.1:n.1373C>T
ENST00000698847.1:c.*641C>T	ENSP00000513982.1:n.*641C>T
ENST00000698848.1:n.425C>T
ENST00000698849.1:n.356C>T
ENST00000698850.1:n.895C>T
ENST00000698852.1:c.1236C>T	ENSP00000513984.1:p.Ser412=
ENST00000698853.1:c.*465C>T	ENSP00000513985.1:n.*465C>T
ENST00000698854.1:c.*566C>T	ENSP00000513986.1:n.*566C>T
ENST00000698855.1:n.2888C>T
ENST00000698856.1:n.2473C>T
ENST00000698859.1:n.1400C>T
ENST00000698860.1:c.1248C>T	ENSP00000513988.1:p.Ser416=
ENST00000698861.1:c.1236C>T	ENSP00000513989.1:p.Ser412=
ENST00000698862.1:c.*532C>T	ENSP00000513990.1:n.*532C>T
ENST00000698863.1:c.1236C>T	ENSP00000513991.1:p.Ser412=
ENST00000698864.1:n.1342C>T
ENST00000698865.1:c.1257C>T	ENSP00000513992.1:p.Ser419=
ENST00000698866.1:c.*641C>T	ENSP00000513993.1:n.*641C>T
ENST00000698867.1:n.5211C>T
ENST00000698868.1:c.1101C>T	ENSP00000513994.1:p.Ser367=
ENST00000698869.1:c.1236C>T	ENSP00000513995.1:p.Ser412=
ENST00000698870.1:c.1236C>T	ENSP00000513996.1:p.Ser412=
ENST00000698871.1:n.1759C>T
ENST00000698872.1:c.*25C>T	ENSP00000513997.1:n.*25C>T
ENST00000698873.1:c.*431C>T	ENSP00000513998.1:n.*431C>T
ENST00000698874.1:c.696C>T	ENSP00000513999.1:p.Ser232=
ENST00000698875.1:n.1096C>T
ENST00000698876.1:n.1175C>T
ENST00000698877.1:n.804C>T
ENST00000698878.1:c.1236C>T	ENSP00000514000.1:p.Ser412=
ENST00000698880.1:c.1076C>T
ENST00000345728.10:c.1236C>T MANE Select	ENSP00000339950.5:p.Ser412=
ENST00000279227.9:c.1248C>T	ENSP00000279227.5:p.Ser416=
ENST00000345728.9:c.1236C>T	ENSP00000339950.5:p.Ser412=
ENST00000540957.1:n.389C>T
ENST00000541326.5:n.543C>T
NM_031471.5:c.1236C>T	NP_113659.3:p.Ser412=
NM_178443.2:c.1248C>T , LRG_180t1:c.1248C>T	NP_848537.1:p.Ser416=
XM_011545294.1:c.1248C>T	XP_011543596.1:p.Ser416=
XM_011545295.1:c.708C>T	XP_011543597.1:p.Ser236=
XM_011545296.1:c.708C>T	XP_011543598.1:p.Ser236=
XM_011545294.3:c.1248C>T	XP_011543596.1:p.Ser416=
XM_011545295.2:c.708C>T	XP_011543597.1:p.Ser236=
XM_017018398.2:c.1236C>T	XP_016873887.1:p.Ser412=
XM_017018399.1:c.696C>T	XP_016873888.1:p.Ser232=
NM_031471.6:c.1236C>T MANE Select	NP_113659.3:p.Ser412=
NM_001382361.1:c.1236C>T	NP_001369290.1:p.Ser412=
NM_001382362.1:c.1248C>T	NP_001369291.1:p.Ser416=
NM_001382363.1:c.696C>T	NP_001369292.1:p.Ser232=
NM_001382364.1:c.708C>T	NP_001369293.1:p.Ser236=
NM_001382448.1:c.1236C>T	NP_001369377.1:p.Ser412=
NM_178443.3:c.1248C>T	NP_848537.1:p.Ser416=