Canonical Allele Identifier: CA381090001

Gene: FERMT3

Linked Data

• dbSNP Id: rs754123786
• gnomAD v4: 11-64223157-C-A
• MyVariant Identifiers: chr11:g.63990629C>A (hg19) ; chr11:g.64223157C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223157C>A , CM000673.2:g.64223157C>A	GRCh38
NC_000011.9:g.63990629C>A , CM000673.1:g.63990629C>A	GRCh37
NC_000011.8:g.63747205C>A	NCBI36
NG_016360.1:g.21478C>A , LRG_180:g.21478C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1792C>A	ENSP00000279227.5:p.Arg598Ser
ENST00000540554.2:n.3304C>A
ENST00000541252.2:c.1240C>A	ENSP00000438885.2:p.Arg414Ser
ENST00000544997.6:c.1780C>A	ENSP00000445778.2:p.Arg594Ser
ENST00000545896.2:c.344C>A	ENSP00000440209.2:p.Ala115Glu
ENST00000546255.2:n.2084C>A
ENST00000698845.1:c.*975C>A	ENSP00000513981.1:n.*975C>A
ENST00000698846.1:n.2026C>A
ENST00000698847.1:c.*1185C>A	ENSP00000513982.1:n.*1185C>A
ENST00000698850.1:n.3801C>A
ENST00000698852.1:c.1780C>A	ENSP00000513984.1:p.Arg594Ser
ENST00000698853.1:c.*1009C>A	ENSP00000513985.1:n.*1009C>A
ENST00000698854.1:c.*1110C>A	ENSP00000513986.1:n.*1110C>A
ENST00000698855.1:n.3432C>A
ENST00000698856.1:n.3126C>A
ENST00000698859.1:n.2290C>A
ENST00000698860.1:c.1792C>A	ENSP00000513988.1:p.Arg598Ser
ENST00000698861.1:c.1780C>A	ENSP00000513989.1:p.Arg594Ser
ENST00000698862.1:c.*1076C>A	ENSP00000513990.1:n.*1076C>A
ENST00000698863.1:c.1780C>A	ENSP00000513991.1:p.Arg594Ser
ENST00000698864.1:n.2341C>A
ENST00000698865.1:c.1801C>A	ENSP00000513992.1:p.Arg601Ser
ENST00000698866.1:c.*1568C>A	ENSP00000513993.1:n.*1568C>A
ENST00000698867.1:n.5755C>A
ENST00000698868.1:c.1645C>A	ENSP00000513994.1:p.Arg549Ser
ENST00000698869.1:c.1546C>A	ENSP00000513995.1:p.Arg516Ser
ENST00000698870.1:c.1780C>A	ENSP00000513996.1:p.Arg594Ser
ENST00000698871.1:n.2303C>A
ENST00000698872.1:c.*569C>A	ENSP00000513997.1:n.*569C>A
ENST00000698873.1:c.*975C>A	ENSP00000513998.1:n.*975C>A
ENST00000698874.1:c.1240C>A	ENSP00000513999.1:p.Arg414Ser
ENST00000698875.1:n.1640C>A
ENST00000698876.1:n.1828C>A
ENST00000698877.1:n.1348C>A
ENST00000698878.1:c.1774C>A	ENSP00000514000.1:p.Arg592Ser
ENST00000698880.1:c.1648C>A
ENST00000345728.10:c.1780C>A MANE Select	ENSP00000339950.5:p.Arg594Ser
ENST00000279227.9:c.1792C>A	ENSP00000279227.5:p.Arg598Ser
ENST00000345728.9:c.1780C>A	ENSP00000339950.5:p.Arg594Ser
ENST00000545896.1:c.343C>A	ENSP00000440209.1:p.Arg115Ser
NM_031471.5:c.1780C>A	NP_113659.3:p.Arg594Ser
NM_178443.2:c.1792C>A , LRG_180t1:c.1792C>A	NP_848537.1:p.Arg598Ser
XM_011545294.1:c.1792C>A	XP_011543596.1:p.Arg598Ser
XM_011545295.1:c.1252C>A	XP_011543597.1:p.Arg418Ser
XM_011545296.1:c.1252C>A	XP_011543598.1:p.Arg418Ser
XM_011545294.3:c.1792C>A	XP_011543596.1:p.Arg598Ser
XM_011545295.2:c.1252C>A	XP_011543597.1:p.Arg418Ser
XM_017018398.2:c.1780C>A	XP_016873887.1:p.Arg594Ser
XM_017018399.1:c.1240C>A	XP_016873888.1:p.Arg414Ser
NM_031471.6:c.1780C>A MANE Select	NP_113659.3:p.Arg594Ser
NM_001382361.1:c.1780C>A	NP_001369290.1:p.Arg594Ser
NM_001382362.1:c.1792C>A	NP_001369291.1:p.Arg598Ser
NM_001382363.1:c.1240C>A	NP_001369292.1:p.Arg414Ser
NM_001382364.1:c.1252C>A	NP_001369293.1:p.Arg418Ser
NM_001382448.1:c.1780C>A	NP_001369377.1:p.Arg594Ser
NM_178443.3:c.1792C>A	NP_848537.1:p.Arg598Ser