Canonical Allele Identifier: CA6068870

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 1671459
• ClinVar RCV Id: RCV002198942
• dbSNP Id: rs780592693
• ExAC: 11:63979135 G / A
• gnomAD v2: 11-63979135-G-A
• gnomAD v4: 11-64211663-G-A
• MyVariant Identifiers: chr11:g.63979135G>A (hg19) ; chr11:g.64211663G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64211663G>A , CM000673.2:g.64211663G>A	GRCh38
NC_000011.9:g.63979135G>A , CM000673.1:g.63979135G>A	GRCh37
NC_000011.8:g.63735711G>A	NCBI36
NG_016360.1:g.9984G>A , LRG_180:g.9984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.702G>A	ENSP00000279227.5:p.Arg234=
ENST00000541252.2:c.162G>A	ENSP00000438885.2:p.Arg54=
ENST00000541326.6:n.19G>A
ENST00000544997.6:c.702G>A	ENSP00000445778.2:p.Arg234=
ENST00000546255.2:n.796G>A
ENST00000698845.1:c.702G>A	ENSP00000513981.1:p.Arg234=
ENST00000698846.1:n.839G>A
ENST00000698847.1:c.*107G>A	ENSP00000513982.1:n.*107G>A
ENST00000698850.1:n.14G>A
ENST00000698852.1:c.702G>A	ENSP00000513984.1:p.Arg234=
ENST00000698853.1:c.702G>A	ENSP00000513985.1:p.Arg234=
ENST00000698854.1:c.702G>A	ENSP00000513986.1:p.Arg234=
ENST00000698855.1:n.2354G>A
ENST00000698856.1:n.1622G>A
ENST00000698859.1:n.866G>A
ENST00000698860.1:c.702G>A	ENSP00000513988.1:p.Arg234=
ENST00000698861.1:c.702G>A	ENSP00000513989.1:p.Arg234=
ENST00000698862.1:c.702G>A	ENSP00000513990.1:p.Arg234=
ENST00000698863.1:c.702G>A	ENSP00000513991.1:p.Arg234=
ENST00000698864.1:n.808G>A
ENST00000698865.1:c.702G>A	ENSP00000513992.1:p.Arg234=
ENST00000698866.1:c.*107G>A	ENSP00000513993.1:n.*107G>A
ENST00000698867.1:n.4411G>A
ENST00000698868.1:c.702G>A	ENSP00000513994.1:p.Arg234=
ENST00000698869.1:c.702G>A	ENSP00000513995.1:p.Arg234=
ENST00000698870.1:c.702G>A	ENSP00000513996.1:p.Arg234=
ENST00000698871.1:n.959G>A
ENST00000698872.1:c.162G>A	ENSP00000513997.1:p.Arg54=
ENST00000698873.1:c.162G>A	ENSP00000513998.1:p.Arg54=
ENST00000698874.1:c.162G>A	ENSP00000513999.1:p.Arg54=
ENST00000698875.1:n.562G>A
ENST00000698878.1:c.702G>A	ENSP00000514000.1:p.Arg234=
ENST00000698879.1:c.611G>A
ENST00000698880.1:c.542G>A
ENST00000345728.10:c.702G>A MANE Select	ENSP00000339950.5:p.Arg234=
ENST00000279227.9:c.702G>A	ENSP00000279227.5:p.Arg234=
ENST00000345728.9:c.702G>A	ENSP00000339950.5:p.Arg234=
ENST00000541252.1:c.162G>A	ENSP00000438885.1:p.Arg54=
ENST00000541326.5:n.14G>A
ENST00000544997.5:c.702G>A	ENSP00000445778.1:p.Arg234=
NM_031471.5:c.702G>A	NP_113659.3:p.Arg234=
NM_178443.2:c.702G>A , LRG_180t1:c.702G>A	NP_848537.1:p.Arg234=
XM_011545294.1:c.702G>A	XP_011543596.1:p.Arg234=
XM_011545295.1:c.162G>A	XP_011543597.1:p.Arg54=
XM_011545296.1:c.162G>A	XP_011543598.1:p.Arg54=
XM_011545294.3:c.702G>A	XP_011543596.1:p.Arg234=
XM_011545295.2:c.162G>A	XP_011543597.1:p.Arg54=
XM_017018398.2:c.702G>A	XP_016873887.1:p.Arg234=
XM_017018399.1:c.162G>A	XP_016873888.1:p.Arg54=
NM_031471.6:c.702G>A MANE Select	NP_113659.3:p.Arg234=
NM_001382361.1:c.702G>A	NP_001369290.1:p.Arg234=
NM_001382362.1:c.702G>A	NP_001369291.1:p.Arg234=
NM_001382363.1:c.162G>A	NP_001369292.1:p.Arg54=
NM_001382364.1:c.162G>A	NP_001369293.1:p.Arg54=
NM_001382448.1:c.702G>A	NP_001369377.1:p.Arg234=
NM_178443.3:c.702G>A	NP_848537.1:p.Arg234=