Canonical Allele Identifier: CA381088471

Gene: FERMT3

Linked Data

• dbSNP Id: rs1175013411
• gnomAD v2: 11-63988120-G-A
• MyVariant Identifiers: chr11:g.63988120G>A (hg19) ; chr11:g.64220648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220648G>A , CM000673.2:g.64220648G>A	GRCh38
NC_000011.9:g.63988120G>A , CM000673.1:g.63988120G>A	GRCh37
NC_000011.8:g.63744696G>A	NCBI36
NG_016360.1:g.18969G>A , LRG_180:g.18969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1536G>A	ENSP00000279227.5:p.Gln512=
ENST00000540554.2:n.2702G>A
ENST00000541252.2:c.984G>A	ENSP00000438885.2:p.Gln328=
ENST00000541326.6:n.945G>A
ENST00000544997.6:c.1524G>A	ENSP00000445778.2:p.Gln508=
ENST00000545896.2:c.213G>A	ENSP00000440209.2:p.Gln71=
ENST00000546255.2:n.1828G>A
ENST00000698845.1:c.*719G>A	ENSP00000513981.1:n.*719G>A
ENST00000698846.1:n.1770G>A
ENST00000698847.1:c.*929G>A	ENSP00000513982.1:n.*929G>A
ENST00000698849.1:n.644G>A
ENST00000698850.1:n.1292G>A
ENST00000698852.1:c.1524G>A	ENSP00000513984.1:p.Gln508=
ENST00000698853.1:c.*753G>A	ENSP00000513985.1:n.*753G>A
ENST00000698854.1:c.*854G>A	ENSP00000513986.1:n.*854G>A
ENST00000698855.1:n.3176G>A
ENST00000698856.1:n.2870G>A
ENST00000698859.1:n.1688G>A
ENST00000698860.1:c.1536G>A	ENSP00000513988.1:p.Gln512=
ENST00000698861.1:c.1524G>A	ENSP00000513989.1:p.Gln508=
ENST00000698862.1:c.*820G>A	ENSP00000513990.1:n.*820G>A
ENST00000698863.1:c.1524G>A	ENSP00000513991.1:p.Gln508=
ENST00000698864.1:n.1739G>A
ENST00000698865.1:c.1545G>A	ENSP00000513992.1:p.Gln515=
ENST00000698866.1:c.*1038G>A	ENSP00000513993.1:n.*1038G>A
ENST00000698867.1:n.5499G>A
ENST00000698868.1:c.1389G>A	ENSP00000513994.1:p.Gln463=
ENST00000698869.1:c.1311+322G>A	ENSP00000513995.1:n.1311+322G>A
ENST00000698870.1:c.1524G>A	ENSP00000513996.1:p.Gln508=
ENST00000698871.1:n.2047G>A
ENST00000698872.1:c.*313G>A	ENSP00000513997.1:n.*313G>A
ENST00000698873.1:c.*719G>A	ENSP00000513998.1:n.*719G>A
ENST00000698874.1:c.984G>A	ENSP00000513999.1:p.Gln328=
ENST00000698875.1:n.1384G>A
ENST00000698876.1:n.1572G>A
ENST00000698877.1:n.1092G>A
ENST00000698878.1:c.1518G>A	ENSP00000514000.1:p.Gln506=
ENST00000698880.1:c.1392G>A
ENST00000345728.10:c.1524G>A MANE Select	ENSP00000339950.5:p.Gln508=
ENST00000279227.9:c.1536G>A	ENSP00000279227.5:p.Gln512=
ENST00000345728.9:c.1524G>A	ENSP00000339950.5:p.Gln508=
ENST00000545896.1:c.212G>A	ENSP00000440209.1:p.Ser71Asn
NM_031471.5:c.1524G>A	NP_113659.3:p.Gln508=
NM_178443.2:c.1536G>A , LRG_180t1:c.1536G>A	NP_848537.1:p.Gln512=
XM_011545294.1:c.1536G>A	XP_011543596.1:p.Gln512=
XM_011545295.1:c.996G>A	XP_011543597.1:p.Gln332=
XM_011545296.1:c.996G>A	XP_011543598.1:p.Gln332=
XM_011545294.3:c.1536G>A	XP_011543596.1:p.Gln512=
XM_011545295.2:c.996G>A	XP_011543597.1:p.Gln332=
XM_017018398.2:c.1524G>A	XP_016873887.1:p.Gln508=
XM_017018399.1:c.984G>A	XP_016873888.1:p.Gln328=
NM_031471.6:c.1524G>A MANE Select	NP_113659.3:p.Gln508=
NM_001382361.1:c.1524G>A	NP_001369290.1:p.Gln508=
NM_001382362.1:c.1536G>A	NP_001369291.1:p.Gln512=
NM_001382363.1:c.984G>A	NP_001369292.1:p.Gln328=
NM_001382364.1:c.996G>A	NP_001369293.1:p.Gln332=
NM_001382448.1:c.1524G>A	NP_001369377.1:p.Gln508=
NM_178443.3:c.1536G>A	NP_848537.1:p.Gln512=