Canonical Allele Identifier: CA475151805

Gene: FERMT3

Linked Data

• dbSNP Id: rs184609471
• gnomAD v2: 11-63990580-C-A
• gnomAD v4: 11-64223108-C-A
• MyVariant Identifiers: chr11:g.63990580C>A (hg19) ; chr11:g.64223108C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223108C>A , CM000673.2:g.64223108C>A	GRCh38
NC_000011.9:g.63990580C>A , CM000673.1:g.63990580C>A	GRCh37
NC_000011.8:g.63747156C>A	NCBI36
NG_016360.1:g.21429C>A , LRG_180:g.21429C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1743C>A	ENSP00000279227.5:p.Ile581=
ENST00000540554.2:n.3255C>A
ENST00000541252.2:c.1191C>A	ENSP00000438885.2:p.Ile397=
ENST00000544997.6:c.1731C>A	ENSP00000445778.2:p.Ile577=
ENST00000545896.2:c.295C>A	ENSP00000440209.2:p.Arg99=
ENST00000546255.2:n.2035C>A
ENST00000698845.1:c.*926C>A	ENSP00000513981.1:n.*926C>A
ENST00000698846.1:n.1977C>A
ENST00000698847.1:c.*1136C>A	ENSP00000513982.1:n.*1136C>A
ENST00000698850.1:n.3752C>A
ENST00000698852.1:c.1731C>A	ENSP00000513984.1:p.Ile577=
ENST00000698853.1:c.*960C>A	ENSP00000513985.1:n.*960C>A
ENST00000698854.1:c.*1061C>A	ENSP00000513986.1:n.*1061C>A
ENST00000698855.1:n.3383C>A
ENST00000698856.1:n.3077C>A
ENST00000698859.1:n.2241C>A
ENST00000698860.1:c.1743C>A	ENSP00000513988.1:p.Ile581=
ENST00000698861.1:c.1731C>A	ENSP00000513989.1:p.Ile577=
ENST00000698862.1:c.*1027C>A	ENSP00000513990.1:n.*1027C>A
ENST00000698863.1:c.1731C>A	ENSP00000513991.1:p.Ile577=
ENST00000698864.1:n.2292C>A
ENST00000698865.1:c.1752C>A	ENSP00000513992.1:p.Ile584=
ENST00000698866.1:c.*1519C>A	ENSP00000513993.1:n.*1519C>A
ENST00000698867.1:n.5706C>A
ENST00000698868.1:c.1596C>A	ENSP00000513994.1:p.Ile532=
ENST00000698869.1:c.1497C>A	ENSP00000513995.1:p.Ile499=
ENST00000698870.1:c.1731C>A	ENSP00000513996.1:p.Ile577=
ENST00000698871.1:n.2254C>A
ENST00000698872.1:c.*520C>A	ENSP00000513997.1:n.*520C>A
ENST00000698873.1:c.*926C>A	ENSP00000513998.1:n.*926C>A
ENST00000698874.1:c.1191C>A	ENSP00000513999.1:p.Ile397=
ENST00000698875.1:n.1591C>A
ENST00000698876.1:n.1779C>A
ENST00000698877.1:n.1299C>A
ENST00000698878.1:c.1725C>A	ENSP00000514000.1:p.Ile575=
ENST00000698880.1:c.1599C>A
ENST00000345728.10:c.1731C>A MANE Select	ENSP00000339950.5:p.Ile577=
ENST00000279227.9:c.1743C>A	ENSP00000279227.5:p.Ile581=
ENST00000345728.9:c.1731C>A	ENSP00000339950.5:p.Ile577=
ENST00000540554.1:n.367C>A
ENST00000545896.1:c.294C>A	ENSP00000440209.1:p.Ile98=
NM_031471.5:c.1731C>A	NP_113659.3:p.Ile577=
NM_178443.2:c.1743C>A , LRG_180t1:c.1743C>A	NP_848537.1:p.Ile581=
XM_011545294.1:c.1743C>A	XP_011543596.1:p.Ile581=
XM_011545295.1:c.1203C>A	XP_011543597.1:p.Ile401=
XM_011545296.1:c.1203C>A	XP_011543598.1:p.Ile401=
XM_011545294.3:c.1743C>A	XP_011543596.1:p.Ile581=
XM_011545295.2:c.1203C>A	XP_011543597.1:p.Ile401=
XM_017018398.2:c.1731C>A	XP_016873887.1:p.Ile577=
XM_017018399.1:c.1191C>A	XP_016873888.1:p.Ile397=
NM_031471.6:c.1731C>A MANE Select	NP_113659.3:p.Ile577=
NM_001382361.1:c.1731C>A	NP_001369290.1:p.Ile577=
NM_001382362.1:c.1743C>A	NP_001369291.1:p.Ile581=
NM_001382363.1:c.1191C>A	NP_001369292.1:p.Ile397=
NM_001382364.1:c.1203C>A	NP_001369293.1:p.Ile401=
NM_001382448.1:c.1731C>A	NP_001369377.1:p.Ile577=
NM_178443.3:c.1743C>A	NP_848537.1:p.Ile581=