Canonical Allele Identifier: CA381087658
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220520G>T , CM000673.2:g.64220520G>T GRCh38
NC_000011.9:g.63987992G>T , CM000673.1:g.63987992G>T GRCh37
NC_000011.8:g.63744568G>T NCBI36
NG_016360.1:g.18841G>T , LRG_180:g.18841G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1408G>T ENSP00000279227.5:p.Val470Leu
ENST00000540554.2:n.2574G>T
ENST00000541252.2:c.856G>T ENSP00000438885.2:p.Val286Leu
ENST00000541326.6:n.817G>T
ENST00000544997.6:c.1396G>T ENSP00000445778.2:p.Val466Leu
ENST00000545896.2:c.85G>T ENSP00000440209.2:p.Val29Leu
ENST00000546255.2:n.1700G>T
ENST00000698845.1:c.*591G>T ENSP00000513981.1:n.*591G>T
ENST00000698846.1:n.1642G>T
ENST00000698847.1:c.*801G>T ENSP00000513982.1:n.*801G>T
ENST00000698849.1:n.516G>T
ENST00000698850.1:n.1164G>T
ENST00000698852.1:c.1396G>T ENSP00000513984.1:p.Val466Leu
ENST00000698853.1:c.*625G>T ENSP00000513985.1:n.*625G>T
ENST00000698854.1:c.*726G>T ENSP00000513986.1:n.*726G>T
ENST00000698855.1:n.3048G>T
ENST00000698856.1:n.2742G>T
ENST00000698859.1:n.1560G>T
ENST00000698860.1:c.1408G>T ENSP00000513988.1:p.Val470Leu
ENST00000698861.1:c.1396G>T ENSP00000513989.1:p.Val466Leu
ENST00000698862.1:c.*692G>T ENSP00000513990.1:n.*692G>T
ENST00000698863.1:c.1396G>T ENSP00000513991.1:p.Val466Leu
ENST00000698864.1:n.1611G>T
ENST00000698865.1:c.1417G>T ENSP00000513992.1:p.Val473Leu
ENST00000698866.1:c.*910G>T ENSP00000513993.1:n.*910G>T
ENST00000698867.1:n.5371G>T
ENST00000698868.1:c.1261G>T ENSP00000513994.1:p.Val421Leu
ENST00000698869.1:c.1311+194G>T ENSP00000513995.1:n.1311+194G>T
ENST00000698870.1:c.1396G>T ENSP00000513996.1:p.Val466Leu
ENST00000698871.1:n.1919G>T
ENST00000698872.1:c.*185G>T ENSP00000513997.1:n.*185G>T
ENST00000698873.1:c.*591G>T ENSP00000513998.1:n.*591G>T
ENST00000698874.1:c.856G>T ENSP00000513999.1:p.Val286Leu
ENST00000698875.1:n.1256G>T
ENST00000698876.1:n.1444G>T
ENST00000698877.1:n.964G>T
ENST00000698878.1:c.1390G>T ENSP00000514000.1:p.Val464Leu
ENST00000698880.1:c.1264G>T
ENST00000345728.10:c.1396G>T MANE Select ENSP00000339950.5:p.Val466Leu
ENST00000279227.9:c.1408G>T ENSP00000279227.5:p.Val470Leu
ENST00000345728.9:c.1396G>T ENSP00000339950.5:p.Val466Leu
ENST00000541326.5:n.812G>T
ENST00000545896.1:c.84G>T ENSP00000440209.1:p.Arg28Ser
NM_031471.5:c.1396G>T NP_113659.3:p.Val466Leu
NM_178443.2:c.1408G>T , LRG_180t1:c.1408G>T NP_848537.1:p.Val470Leu
XM_011545294.1:c.1408G>T XP_011543596.1:p.Val470Leu
XM_011545295.1:c.868G>T XP_011543597.1:p.Val290Leu
XM_011545296.1:c.868G>T XP_011543598.1:p.Val290Leu
XM_011545294.3:c.1408G>T XP_011543596.1:p.Val470Leu
XM_011545295.2:c.868G>T XP_011543597.1:p.Val290Leu
XM_017018398.2:c.1396G>T XP_016873887.1:p.Val466Leu
XM_017018399.1:c.856G>T XP_016873888.1:p.Val286Leu
NM_031471.6:c.1396G>T MANE Select NP_113659.3:p.Val466Leu
NM_001382361.1:c.1396G>T NP_001369290.1:p.Val466Leu
NM_001382362.1:c.1408G>T NP_001369291.1:p.Val470Leu
NM_001382363.1:c.856G>T NP_001369292.1:p.Val286Leu
NM_001382364.1:c.868G>T NP_001369293.1:p.Val290Leu
NM_001382448.1:c.1396G>T NP_001369377.1:p.Val466Leu
NM_178443.3:c.1408G>T NP_848537.1:p.Val470Leu