Canonical Allele Identifier: CA381087669
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220522G>T , CM000673.2:g.64220522G>T GRCh38
NC_000011.9:g.63987994G>T , CM000673.1:g.63987994G>T GRCh37
NC_000011.8:g.63744570G>T NCBI36
NG_016360.1:g.18843G>T , LRG_180:g.18843G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1410G>T ENSP00000279227.5:p.Val470=
ENST00000540554.2:n.2576G>T
ENST00000541252.2:c.858G>T ENSP00000438885.2:p.Val286=
ENST00000541326.6:n.819G>T
ENST00000544997.6:c.1398G>T ENSP00000445778.2:p.Val466=
ENST00000545896.2:c.87G>T ENSP00000440209.2:p.Val29=
ENST00000546255.2:n.1702G>T
ENST00000698845.1:c.*593G>T ENSP00000513981.1:n.*593G>T
ENST00000698846.1:n.1644G>T
ENST00000698847.1:c.*803G>T ENSP00000513982.1:n.*803G>T
ENST00000698849.1:n.518G>T
ENST00000698850.1:n.1166G>T
ENST00000698852.1:c.1398G>T ENSP00000513984.1:p.Val466=
ENST00000698853.1:c.*627G>T ENSP00000513985.1:n.*627G>T
ENST00000698854.1:c.*728G>T ENSP00000513986.1:n.*728G>T
ENST00000698855.1:n.3050G>T
ENST00000698856.1:n.2744G>T
ENST00000698859.1:n.1562G>T
ENST00000698860.1:c.1410G>T ENSP00000513988.1:p.Val470=
ENST00000698861.1:c.1398G>T ENSP00000513989.1:p.Val466=
ENST00000698862.1:c.*694G>T ENSP00000513990.1:n.*694G>T
ENST00000698863.1:c.1398G>T ENSP00000513991.1:p.Val466=
ENST00000698864.1:n.1613G>T
ENST00000698865.1:c.1419G>T ENSP00000513992.1:p.Val473=
ENST00000698866.1:c.*912G>T ENSP00000513993.1:n.*912G>T
ENST00000698867.1:n.5373G>T
ENST00000698868.1:c.1263G>T ENSP00000513994.1:p.Val421=
ENST00000698869.1:c.1311+196G>T ENSP00000513995.1:n.1311+196G>T
ENST00000698870.1:c.1398G>T ENSP00000513996.1:p.Val466=
ENST00000698871.1:n.1921G>T
ENST00000698872.1:c.*187G>T ENSP00000513997.1:n.*187G>T
ENST00000698873.1:c.*593G>T ENSP00000513998.1:n.*593G>T
ENST00000698874.1:c.858G>T ENSP00000513999.1:p.Val286=
ENST00000698875.1:n.1258G>T
ENST00000698876.1:n.1446G>T
ENST00000698877.1:n.966G>T
ENST00000698878.1:c.1392G>T ENSP00000514000.1:p.Val464=
ENST00000698880.1:c.1266G>T
ENST00000345728.10:c.1398G>T MANE Select ENSP00000339950.5:p.Val466=
ENST00000279227.9:c.1410G>T ENSP00000279227.5:p.Val470=
ENST00000345728.9:c.1398G>T ENSP00000339950.5:p.Val466=
ENST00000541326.5:n.814G>T
ENST00000545896.1:c.86G>T ENSP00000440209.1:p.Cys29Phe
NM_031471.5:c.1398G>T NP_113659.3:p.Val466=
NM_178443.2:c.1410G>T , LRG_180t1:c.1410G>T NP_848537.1:p.Val470=
XM_011545294.1:c.1410G>T XP_011543596.1:p.Val470=
XM_011545295.1:c.870G>T XP_011543597.1:p.Val290=
XM_011545296.1:c.870G>T XP_011543598.1:p.Val290=
XM_011545294.3:c.1410G>T XP_011543596.1:p.Val470=
XM_011545295.2:c.870G>T XP_011543597.1:p.Val290=
XM_017018398.2:c.1398G>T XP_016873887.1:p.Val466=
XM_017018399.1:c.858G>T XP_016873888.1:p.Val286=
NM_031471.6:c.1398G>T MANE Select NP_113659.3:p.Val466=
NM_001382361.1:c.1398G>T NP_001369290.1:p.Val466=
NM_001382362.1:c.1410G>T NP_001369291.1:p.Val470=
NM_001382363.1:c.858G>T NP_001369292.1:p.Val286=
NM_001382364.1:c.870G>T NP_001369293.1:p.Val290=
NM_001382448.1:c.1398G>T NP_001369377.1:p.Val466=
NM_178443.3:c.1410G>T NP_848537.1:p.Val470=