Canonical Allele Identifier: CA381087854

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220560-G-C
• MyVariant Identifiers: chr11:g.63988032G>C (hg19) ; chr11:g.64220560G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220560G>C , CM000673.2:g.64220560G>C	GRCh38
NC_000011.9:g.63988032G>C , CM000673.1:g.63988032G>C	GRCh37
NC_000011.8:g.63744608G>C	NCBI36
NG_016360.1:g.18881G>C , LRG_180:g.18881G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1448G>C	ENSP00000279227.5:p.Gly483Ala
ENST00000540554.2:n.2614G>C
ENST00000541252.2:c.896G>C	ENSP00000438885.2:p.Gly299Ala
ENST00000541326.6:n.857G>C
ENST00000544997.6:c.1436G>C	ENSP00000445778.2:p.Gly479Ala
ENST00000545896.2:c.125G>C	ENSP00000440209.2:p.Gly42Ala
ENST00000546255.2:n.1740G>C
ENST00000698845.1:c.*631G>C	ENSP00000513981.1:n.*631G>C
ENST00000698846.1:n.1682G>C
ENST00000698847.1:c.*841G>C	ENSP00000513982.1:n.*841G>C
ENST00000698849.1:n.556G>C
ENST00000698850.1:n.1204G>C
ENST00000698852.1:c.1436G>C	ENSP00000513984.1:p.Gly479Ala
ENST00000698853.1:c.*665G>C	ENSP00000513985.1:n.*665G>C
ENST00000698854.1:c.*766G>C	ENSP00000513986.1:n.*766G>C
ENST00000698855.1:n.3088G>C
ENST00000698856.1:n.2782G>C
ENST00000698859.1:n.1600G>C
ENST00000698860.1:c.1448G>C	ENSP00000513988.1:p.Gly483Ala
ENST00000698861.1:c.1436G>C	ENSP00000513989.1:p.Gly479Ala
ENST00000698862.1:c.*732G>C	ENSP00000513990.1:n.*732G>C
ENST00000698863.1:c.1436G>C	ENSP00000513991.1:p.Gly479Ala
ENST00000698864.1:n.1651G>C
ENST00000698865.1:c.1457G>C	ENSP00000513992.1:p.Gly486Ala
ENST00000698866.1:c.*950G>C	ENSP00000513993.1:n.*950G>C
ENST00000698867.1:n.5411G>C
ENST00000698868.1:c.1301G>C	ENSP00000513994.1:p.Gly434Ala
ENST00000698869.1:c.1311+234G>C	ENSP00000513995.1:n.1311+234G>C
ENST00000698870.1:c.1436G>C	ENSP00000513996.1:p.Gly479Ala
ENST00000698871.1:n.1959G>C
ENST00000698872.1:c.*225G>C	ENSP00000513997.1:n.*225G>C
ENST00000698873.1:c.*631G>C	ENSP00000513998.1:n.*631G>C
ENST00000698874.1:c.896G>C	ENSP00000513999.1:p.Gly299Ala
ENST00000698875.1:n.1296G>C
ENST00000698876.1:n.1484G>C
ENST00000698877.1:n.1004G>C
ENST00000698878.1:c.1430G>C	ENSP00000514000.1:p.Gly477Ala
ENST00000698880.1:c.1304G>C
ENST00000345728.10:c.1436G>C MANE Select	ENSP00000339950.5:p.Gly479Ala
ENST00000279227.9:c.1448G>C	ENSP00000279227.5:p.Gly483Ala
ENST00000345728.9:c.1436G>C	ENSP00000339950.5:p.Gly479Ala
ENST00000541326.5:n.852G>C
ENST00000545896.1:c.124G>C	ENSP00000440209.1:p.Ala42Pro
NM_031471.5:c.1436G>C	NP_113659.3:p.Gly479Ala
NM_178443.2:c.1448G>C , LRG_180t1:c.1448G>C	NP_848537.1:p.Gly483Ala
XM_011545294.1:c.1448G>C	XP_011543596.1:p.Gly483Ala
XM_011545295.1:c.908G>C	XP_011543597.1:p.Gly303Ala
XM_011545296.1:c.908G>C	XP_011543598.1:p.Gly303Ala
XM_011545294.3:c.1448G>C	XP_011543596.1:p.Gly483Ala
XM_011545295.2:c.908G>C	XP_011543597.1:p.Gly303Ala
XM_017018398.2:c.1436G>C	XP_016873887.1:p.Gly479Ala
XM_017018399.1:c.896G>C	XP_016873888.1:p.Gly299Ala
NM_031471.6:c.1436G>C MANE Select	NP_113659.3:p.Gly479Ala
NM_001382361.1:c.1436G>C	NP_001369290.1:p.Gly479Ala
NM_001382362.1:c.1448G>C	NP_001369291.1:p.Gly483Ala
NM_001382363.1:c.896G>C	NP_001369292.1:p.Gly299Ala
NM_001382364.1:c.908G>C	NP_001369293.1:p.Gly303Ala
NM_001382448.1:c.1436G>C	NP_001369377.1:p.Gly479Ala
NM_178443.3:c.1448G>C	NP_848537.1:p.Gly483Ala