Canonical Allele Identifier: CA381088415

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220638-C-A
• MyVariant Identifiers: chr11:g.63988110C>A (hg19) ; chr11:g.64220638C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220638C>A , CM000673.2:g.64220638C>A	GRCh38
NC_000011.9:g.63988110C>A , CM000673.1:g.63988110C>A	GRCh37
NC_000011.8:g.63744686C>A	NCBI36
NG_016360.1:g.18959C>A , LRG_180:g.18959C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1526C>A	ENSP00000279227.5:p.Pro509His
ENST00000540554.2:n.2692C>A
ENST00000541252.2:c.974C>A	ENSP00000438885.2:p.Pro325His
ENST00000541326.6:n.935C>A
ENST00000544997.6:c.1514C>A	ENSP00000445778.2:p.Pro505His
ENST00000545896.2:c.203C>A	ENSP00000440209.2:p.Pro68His
ENST00000546255.2:n.1818C>A
ENST00000698845.1:c.*709C>A	ENSP00000513981.1:n.*709C>A
ENST00000698846.1:n.1760C>A
ENST00000698847.1:c.*919C>A	ENSP00000513982.1:n.*919C>A
ENST00000698849.1:n.634C>A
ENST00000698850.1:n.1282C>A
ENST00000698852.1:c.1514C>A	ENSP00000513984.1:p.Pro505His
ENST00000698853.1:c.*743C>A	ENSP00000513985.1:n.*743C>A
ENST00000698854.1:c.*844C>A	ENSP00000513986.1:n.*844C>A
ENST00000698855.1:n.3166C>A
ENST00000698856.1:n.2860C>A
ENST00000698859.1:n.1678C>A
ENST00000698860.1:c.1526C>A	ENSP00000513988.1:p.Pro509His
ENST00000698861.1:c.1514C>A	ENSP00000513989.1:p.Pro505His
ENST00000698862.1:c.*810C>A	ENSP00000513990.1:n.*810C>A
ENST00000698863.1:c.1514C>A	ENSP00000513991.1:p.Pro505His
ENST00000698864.1:n.1729C>A
ENST00000698865.1:c.1535C>A	ENSP00000513992.1:p.Pro512His
ENST00000698866.1:c.*1028C>A	ENSP00000513993.1:n.*1028C>A
ENST00000698867.1:n.5489C>A
ENST00000698868.1:c.1379C>A	ENSP00000513994.1:p.Pro460His
ENST00000698869.1:c.1311+312C>A	ENSP00000513995.1:n.1311+312C>A
ENST00000698870.1:c.1514C>A	ENSP00000513996.1:p.Pro505His
ENST00000698871.1:n.2037C>A
ENST00000698872.1:c.*303C>A	ENSP00000513997.1:n.*303C>A
ENST00000698873.1:c.*709C>A	ENSP00000513998.1:n.*709C>A
ENST00000698874.1:c.974C>A	ENSP00000513999.1:p.Pro325His
ENST00000698875.1:n.1374C>A
ENST00000698876.1:n.1562C>A
ENST00000698877.1:n.1082C>A
ENST00000698878.1:c.1508C>A	ENSP00000514000.1:p.Pro503His
ENST00000698880.1:c.1382C>A
ENST00000345728.10:c.1514C>A MANE Select	ENSP00000339950.5:p.Pro505His
ENST00000279227.9:c.1526C>A	ENSP00000279227.5:p.Pro509His
ENST00000345728.9:c.1514C>A	ENSP00000339950.5:p.Pro505His
ENST00000545896.1:c.202C>A	ENSP00000440209.1:p.Pro68Thr
NM_031471.5:c.1514C>A	NP_113659.3:p.Pro505His
NM_178443.2:c.1526C>A , LRG_180t1:c.1526C>A	NP_848537.1:p.Pro509His
XM_011545294.1:c.1526C>A	XP_011543596.1:p.Pro509His
XM_011545295.1:c.986C>A	XP_011543597.1:p.Pro329His
XM_011545296.1:c.986C>A	XP_011543598.1:p.Pro329His
XM_011545294.3:c.1526C>A	XP_011543596.1:p.Pro509His
XM_011545295.2:c.986C>A	XP_011543597.1:p.Pro329His
XM_017018398.2:c.1514C>A	XP_016873887.1:p.Pro505His
XM_017018399.1:c.974C>A	XP_016873888.1:p.Pro325His
NM_031471.6:c.1514C>A MANE Select	NP_113659.3:p.Pro505His
NM_001382361.1:c.1514C>A	NP_001369290.1:p.Pro505His
NM_001382362.1:c.1526C>A	NP_001369291.1:p.Pro509His
NM_001382363.1:c.974C>A	NP_001369292.1:p.Pro325His
NM_001382364.1:c.986C>A	NP_001369293.1:p.Pro329His
NM_001382448.1:c.1514C>A	NP_001369377.1:p.Pro505His
NM_178443.3:c.1526C>A	NP_848537.1:p.Pro509His