Canonical Allele Identifier: CA381088028

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220593-C-A
• MyVariant Identifiers: chr11:g.63988065C>A (hg19) ; chr11:g.64220593C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220593C>A , CM000673.2:g.64220593C>A	GRCh38
NC_000011.9:g.63988065C>A , CM000673.1:g.63988065C>A	GRCh37
NC_000011.8:g.63744641C>A	NCBI36
NG_016360.1:g.18914C>A , LRG_180:g.18914C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1481C>A	ENSP00000279227.5:p.Pro494His
ENST00000540554.2:n.2647C>A
ENST00000541252.2:c.929C>A	ENSP00000438885.2:p.Pro310His
ENST00000541326.6:n.890C>A
ENST00000544997.6:c.1469C>A	ENSP00000445778.2:p.Pro490His
ENST00000545896.2:c.158C>A	ENSP00000440209.2:p.Pro53His
ENST00000546255.2:n.1773C>A
ENST00000698845.1:c.*664C>A	ENSP00000513981.1:n.*664C>A
ENST00000698846.1:n.1715C>A
ENST00000698847.1:c.*874C>A	ENSP00000513982.1:n.*874C>A
ENST00000698849.1:n.589C>A
ENST00000698850.1:n.1237C>A
ENST00000698852.1:c.1469C>A	ENSP00000513984.1:p.Pro490His
ENST00000698853.1:c.*698C>A	ENSP00000513985.1:n.*698C>A
ENST00000698854.1:c.*799C>A	ENSP00000513986.1:n.*799C>A
ENST00000698855.1:n.3121C>A
ENST00000698856.1:n.2815C>A
ENST00000698859.1:n.1633C>A
ENST00000698860.1:c.1481C>A	ENSP00000513988.1:p.Pro494His
ENST00000698861.1:c.1469C>A	ENSP00000513989.1:p.Pro490His
ENST00000698862.1:c.*765C>A	ENSP00000513990.1:n.*765C>A
ENST00000698863.1:c.1469C>A	ENSP00000513991.1:p.Pro490His
ENST00000698864.1:n.1684C>A
ENST00000698865.1:c.1490C>A	ENSP00000513992.1:p.Pro497His
ENST00000698866.1:c.*983C>A	ENSP00000513993.1:n.*983C>A
ENST00000698867.1:n.5444C>A
ENST00000698868.1:c.1334C>A	ENSP00000513994.1:p.Pro445His
ENST00000698869.1:c.1311+267C>A	ENSP00000513995.1:n.1311+267C>A
ENST00000698870.1:c.1469C>A	ENSP00000513996.1:p.Pro490His
ENST00000698871.1:n.1992C>A
ENST00000698872.1:c.*258C>A	ENSP00000513997.1:n.*258C>A
ENST00000698873.1:c.*664C>A	ENSP00000513998.1:n.*664C>A
ENST00000698874.1:c.929C>A	ENSP00000513999.1:p.Pro310His
ENST00000698875.1:n.1329C>A
ENST00000698876.1:n.1517C>A
ENST00000698877.1:n.1037C>A
ENST00000698878.1:c.1463C>A	ENSP00000514000.1:p.Pro488His
ENST00000698880.1:c.1337C>A
ENST00000345728.10:c.1469C>A MANE Select	ENSP00000339950.5:p.Pro490His
ENST00000279227.9:c.1481C>A	ENSP00000279227.5:p.Pro494His
ENST00000345728.9:c.1469C>A	ENSP00000339950.5:p.Pro490His
ENST00000541326.5:n.885C>A
ENST00000545896.1:c.157C>A	ENSP00000440209.1:p.Leu53Met
NM_031471.5:c.1469C>A	NP_113659.3:p.Pro490His
NM_178443.2:c.1481C>A , LRG_180t1:c.1481C>A	NP_848537.1:p.Pro494His
XM_011545294.1:c.1481C>A	XP_011543596.1:p.Pro494His
XM_011545295.1:c.941C>A	XP_011543597.1:p.Pro314His
XM_011545296.1:c.941C>A	XP_011543598.1:p.Pro314His
XM_011545294.3:c.1481C>A	XP_011543596.1:p.Pro494His
XM_011545295.2:c.941C>A	XP_011543597.1:p.Pro314His
XM_017018398.2:c.1469C>A	XP_016873887.1:p.Pro490His
XM_017018399.1:c.929C>A	XP_016873888.1:p.Pro310His
NM_031471.6:c.1469C>A MANE Select	NP_113659.3:p.Pro490His
NM_001382361.1:c.1469C>A	NP_001369290.1:p.Pro490His
NM_001382362.1:c.1481C>A	NP_001369291.1:p.Pro494His
NM_001382363.1:c.929C>A	NP_001369292.1:p.Pro310His
NM_001382364.1:c.941C>A	NP_001369293.1:p.Pro314His
NM_001382448.1:c.1469C>A	NP_001369377.1:p.Pro490His
NM_178443.3:c.1481C>A	NP_848537.1:p.Pro494His