Canonical Allele Identifier: CA475151838
Gene: FERMT3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.63990643C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64223171C>A , CM000673.2:g.64223171C>A GRCh38
NC_000011.9:g.63990643C>A , CM000673.1:g.63990643C>A GRCh37
NC_000011.8:g.63747219C>A NCBI36
NG_016360.1:g.21492C>A , LRG_180:g.21492C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1806C>A ENSP00000279227.5:p.Val602=
ENST00000540554.2:n.3318C>A
ENST00000541252.2:c.1254C>A ENSP00000438885.2:p.Val418=
ENST00000544997.6:c.1794C>A ENSP00000445778.2:p.Val598=
ENST00000545896.2:c.358C>A ENSP00000440209.2:p.Gln120Lys
ENST00000546255.2:n.2098C>A
ENST00000698845.1:c.*989C>A ENSP00000513981.1:n.*989C>A
ENST00000698846.1:n.2040C>A
ENST00000698847.1:c.*1199C>A ENSP00000513982.1:n.*1199C>A
ENST00000698850.1:n.3815C>A
ENST00000698852.1:c.1794C>A ENSP00000513984.1:p.Val598=
ENST00000698853.1:c.*1023C>A ENSP00000513985.1:n.*1023C>A
ENST00000698854.1:c.*1124C>A ENSP00000513986.1:n.*1124C>A
ENST00000698855.1:n.3446C>A
ENST00000698856.1:n.3140C>A
ENST00000698859.1:n.2304C>A
ENST00000698860.1:c.1806C>A ENSP00000513988.1:p.Val602=
ENST00000698861.1:c.1794C>A ENSP00000513989.1:p.Val598=
ENST00000698862.1:c.*1090C>A ENSP00000513990.1:n.*1090C>A
ENST00000698863.1:c.1794C>A ENSP00000513991.1:p.Val598=
ENST00000698864.1:n.2355C>A
ENST00000698865.1:c.1815C>A ENSP00000513992.1:p.Val605=
ENST00000698866.1:c.*1582C>A ENSP00000513993.1:n.*1582C>A
ENST00000698867.1:n.5769C>A
ENST00000698868.1:c.1659C>A ENSP00000513994.1:p.Val553=
ENST00000698869.1:c.1560C>A ENSP00000513995.1:p.Val520=
ENST00000698870.1:c.1794C>A ENSP00000513996.1:p.Val598=
ENST00000698871.1:n.2317C>A
ENST00000698872.1:c.*583C>A ENSP00000513997.1:n.*583C>A
ENST00000698873.1:c.*989C>A ENSP00000513998.1:n.*989C>A
ENST00000698874.1:c.1254C>A ENSP00000513999.1:p.Val418=
ENST00000698875.1:n.1654C>A
ENST00000698876.1:n.1842C>A
ENST00000698877.1:n.1362C>A
ENST00000698878.1:c.1788C>A ENSP00000514000.1:p.Val596=
ENST00000698880.1:c.1662C>A
ENST00000345728.10:c.1794C>A MANE Select ENSP00000339950.5:p.Val598=
ENST00000279227.9:c.1806C>A ENSP00000279227.5:p.Val602=
ENST00000345728.9:c.1794C>A ENSP00000339950.5:p.Val598=
ENST00000545896.1:c.357C>A ENSP00000440209.1:p.Val119=
NM_031471.5:c.1794C>A NP_113659.3:p.Val598=
NM_178443.2:c.1806C>A , LRG_180t1:c.1806C>A NP_848537.1:p.Val602=
XM_011545294.1:c.1806C>A XP_011543596.1:p.Val602=
XM_011545295.1:c.1266C>A XP_011543597.1:p.Val422=
XM_011545296.1:c.1266C>A XP_011543598.1:p.Val422=
XM_011545294.3:c.1806C>A XP_011543596.1:p.Val602=
XM_011545295.2:c.1266C>A XP_011543597.1:p.Val422=
XM_017018398.2:c.1794C>A XP_016873887.1:p.Val598=
XM_017018399.1:c.1254C>A XP_016873888.1:p.Val418=
NM_031471.6:c.1794C>A MANE Select NP_113659.3:p.Val598=
NM_001382361.1:c.1794C>A NP_001369290.1:p.Val598=
NM_001382362.1:c.1806C>A NP_001369291.1:p.Val602=
NM_001382363.1:c.1254C>A NP_001369292.1:p.Val418=
NM_001382364.1:c.1266C>A NP_001369293.1:p.Val422=
NM_001382448.1:c.1794C>A NP_001369377.1:p.Val598=
NM_178443.3:c.1806C>A NP_848537.1:p.Val602=