Canonical Allele Identifier: CA381087790

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220547-C-A
• MyVariant Identifiers: chr11:g.63988019C>A (hg19) ; chr11:g.64220547C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220547C>A , CM000673.2:g.64220547C>A	GRCh38
NC_000011.9:g.63988019C>A , CM000673.1:g.63988019C>A	GRCh37
NC_000011.8:g.63744595C>A	NCBI36
NG_016360.1:g.18868C>A , LRG_180:g.18868C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1435C>A	ENSP00000279227.5:p.Leu479Met
ENST00000540554.2:n.2601C>A
ENST00000541252.2:c.883C>A	ENSP00000438885.2:p.Leu295Met
ENST00000541326.6:n.844C>A
ENST00000544997.6:c.1423C>A	ENSP00000445778.2:p.Leu475Met
ENST00000545896.2:c.112C>A	ENSP00000440209.2:p.Leu38Met
ENST00000546255.2:n.1727C>A
ENST00000698845.1:c.*618C>A	ENSP00000513981.1:n.*618C>A
ENST00000698846.1:n.1669C>A
ENST00000698847.1:c.*828C>A	ENSP00000513982.1:n.*828C>A
ENST00000698849.1:n.543C>A
ENST00000698850.1:n.1191C>A
ENST00000698852.1:c.1423C>A	ENSP00000513984.1:p.Leu475Met
ENST00000698853.1:c.*652C>A	ENSP00000513985.1:n.*652C>A
ENST00000698854.1:c.*753C>A	ENSP00000513986.1:n.*753C>A
ENST00000698855.1:n.3075C>A
ENST00000698856.1:n.2769C>A
ENST00000698859.1:n.1587C>A
ENST00000698860.1:c.1435C>A	ENSP00000513988.1:p.Leu479Met
ENST00000698861.1:c.1423C>A	ENSP00000513989.1:p.Leu475Met
ENST00000698862.1:c.*719C>A	ENSP00000513990.1:n.*719C>A
ENST00000698863.1:c.1423C>A	ENSP00000513991.1:p.Leu475Met
ENST00000698864.1:n.1638C>A
ENST00000698865.1:c.1444C>A	ENSP00000513992.1:p.Leu482Met
ENST00000698866.1:c.*937C>A	ENSP00000513993.1:n.*937C>A
ENST00000698867.1:n.5398C>A
ENST00000698868.1:c.1288C>A	ENSP00000513994.1:p.Leu430Met
ENST00000698869.1:c.1311+221C>A	ENSP00000513995.1:n.1311+221C>A
ENST00000698870.1:c.1423C>A	ENSP00000513996.1:p.Leu475Met
ENST00000698871.1:n.1946C>A
ENST00000698872.1:c.*212C>A	ENSP00000513997.1:n.*212C>A
ENST00000698873.1:c.*618C>A	ENSP00000513998.1:n.*618C>A
ENST00000698874.1:c.883C>A	ENSP00000513999.1:p.Leu295Met
ENST00000698875.1:n.1283C>A
ENST00000698876.1:n.1471C>A
ENST00000698877.1:n.991C>A
ENST00000698878.1:c.1417C>A	ENSP00000514000.1:p.Leu473Met
ENST00000698880.1:c.1291C>A
ENST00000345728.10:c.1423C>A MANE Select	ENSP00000339950.5:p.Leu475Met
ENST00000279227.9:c.1435C>A	ENSP00000279227.5:p.Leu479Met
ENST00000345728.9:c.1423C>A	ENSP00000339950.5:p.Leu475Met
ENST00000541326.5:n.839C>A
ENST00000545896.1:c.111C>A	ENSP00000440209.1:p.Ala37=
NM_031471.5:c.1423C>A	NP_113659.3:p.Leu475Met
NM_178443.2:c.1435C>A , LRG_180t1:c.1435C>A	NP_848537.1:p.Leu479Met
XM_011545294.1:c.1435C>A	XP_011543596.1:p.Leu479Met
XM_011545295.1:c.895C>A	XP_011543597.1:p.Leu299Met
XM_011545296.1:c.895C>A	XP_011543598.1:p.Leu299Met
XM_011545294.3:c.1435C>A	XP_011543596.1:p.Leu479Met
XM_011545295.2:c.895C>A	XP_011543597.1:p.Leu299Met
XM_017018398.2:c.1423C>A	XP_016873887.1:p.Leu475Met
XM_017018399.1:c.883C>A	XP_016873888.1:p.Leu295Met
NM_031471.6:c.1423C>A MANE Select	NP_113659.3:p.Leu475Met
NM_001382361.1:c.1423C>A	NP_001369290.1:p.Leu475Met
NM_001382362.1:c.1435C>A	NP_001369291.1:p.Leu479Met
NM_001382363.1:c.883C>A	NP_001369292.1:p.Leu295Met
NM_001382364.1:c.895C>A	NP_001369293.1:p.Leu299Met
NM_001382448.1:c.1423C>A	NP_001369377.1:p.Leu475Met
NM_178443.3:c.1435C>A	NP_848537.1:p.Leu479Met