Canonical Allele Identifier: CA381090105

Gene: FERMT3

Linked Data

• dbSNP Id: rs1243450393
• gnomAD v2: 11-63990646-C-A
• gnomAD v4: 11-64223174-C-A
• MyVariant Identifiers: chr11:g.63990646C>A (hg19) ; chr11:g.64223174C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223174C>A , CM000673.2:g.64223174C>A	GRCh38
NC_000011.9:g.63990646C>A , CM000673.1:g.63990646C>A	GRCh37
NC_000011.8:g.63747222C>A	NCBI36
NG_016360.1:g.21495C>A , LRG_180:g.21495C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1809C>A	ENSP00000279227.5:p.Asn603Lys
ENST00000540554.2:n.3321C>A
ENST00000541252.2:c.1257C>A	ENSP00000438885.2:p.Asn419Lys
ENST00000544997.6:c.1797C>A	ENSP00000445778.2:p.Asn599Lys
ENST00000545896.2:c.361C>A	ENSP00000440209.2:p.Leu121Met
ENST00000546255.2:n.2101C>A
ENST00000698845.1:c.*992C>A	ENSP00000513981.1:n.*992C>A
ENST00000698846.1:n.2043C>A
ENST00000698847.1:c.*1202C>A	ENSP00000513982.1:n.*1202C>A
ENST00000698850.1:n.3818C>A
ENST00000698852.1:c.1797C>A	ENSP00000513984.1:p.Asn599Lys
ENST00000698853.1:c.*1026C>A	ENSP00000513985.1:n.*1026C>A
ENST00000698854.1:c.*1127C>A	ENSP00000513986.1:n.*1127C>A
ENST00000698855.1:n.3449C>A
ENST00000698856.1:n.3143C>A
ENST00000698859.1:n.2307C>A
ENST00000698860.1:c.1809C>A	ENSP00000513988.1:p.Asn603Lys
ENST00000698861.1:c.1797C>A	ENSP00000513989.1:p.Asn599Lys
ENST00000698862.1:c.*1093C>A	ENSP00000513990.1:n.*1093C>A
ENST00000698863.1:c.1797C>A	ENSP00000513991.1:p.Asn599Lys
ENST00000698864.1:n.2358C>A
ENST00000698865.1:c.1818C>A	ENSP00000513992.1:p.Asn606Lys
ENST00000698866.1:c.*1585C>A	ENSP00000513993.1:n.*1585C>A
ENST00000698867.1:n.5772C>A
ENST00000698868.1:c.1662C>A	ENSP00000513994.1:p.Asn554Lys
ENST00000698869.1:c.1563C>A	ENSP00000513995.1:p.Asn521Lys
ENST00000698870.1:c.1797C>A	ENSP00000513996.1:p.Asn599Lys
ENST00000698871.1:n.2320C>A
ENST00000698872.1:c.*586C>A	ENSP00000513997.1:n.*586C>A
ENST00000698873.1:c.*992C>A	ENSP00000513998.1:n.*992C>A
ENST00000698874.1:c.1257C>A	ENSP00000513999.1:p.Asn419Lys
ENST00000698875.1:n.1657C>A
ENST00000698876.1:n.1845C>A
ENST00000698877.1:n.1365C>A
ENST00000698878.1:c.1791C>A	ENSP00000514000.1:p.Asn597Lys
ENST00000698880.1:c.1665C>A
ENST00000345728.10:c.1797C>A MANE Select	ENSP00000339950.5:p.Asn599Lys
ENST00000279227.9:c.1809C>A	ENSP00000279227.5:p.Asn603Lys
ENST00000345728.9:c.1797C>A	ENSP00000339950.5:p.Asn599Lys
ENST00000545896.1:c.360C>A	ENSP00000440209.1:p.Asn120Lys
NM_031471.5:c.1797C>A	NP_113659.3:p.Asn599Lys
NM_178443.2:c.1809C>A , LRG_180t1:c.1809C>A	NP_848537.1:p.Asn603Lys
XM_011545294.1:c.1809C>A	XP_011543596.1:p.Asn603Lys
XM_011545295.1:c.1269C>A	XP_011543597.1:p.Asn423Lys
XM_011545296.1:c.1269C>A	XP_011543598.1:p.Asn423Lys
XM_011545294.3:c.1809C>A	XP_011543596.1:p.Asn603Lys
XM_011545295.2:c.1269C>A	XP_011543597.1:p.Asn423Lys
XM_017018398.2:c.1797C>A	XP_016873887.1:p.Asn599Lys
XM_017018399.1:c.1257C>A	XP_016873888.1:p.Asn419Lys
NM_031471.6:c.1797C>A MANE Select	NP_113659.3:p.Asn599Lys
NM_001382361.1:c.1797C>A	NP_001369290.1:p.Asn599Lys
NM_001382362.1:c.1809C>A	NP_001369291.1:p.Asn603Lys
NM_001382363.1:c.1257C>A	NP_001369292.1:p.Asn419Lys
NM_001382364.1:c.1269C>A	NP_001369293.1:p.Asn423Lys
NM_001382448.1:c.1797C>A	NP_001369377.1:p.Asn599Lys
NM_178443.3:c.1809C>A	NP_848537.1:p.Asn603Lys