Canonical Allele Identifier: CA381087406
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220455G>C , CM000673.2:g.64220455G>C GRCh38
NC_000011.9:g.63987927G>C , CM000673.1:g.63987927G>C GRCh37
NC_000011.8:g.63744503G>C NCBI36
NG_016360.1:g.18776G>C , LRG_180:g.18776G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1343G>C ENSP00000279227.5:p.Trp448Ser
ENST00000540554.2:n.2509G>C
ENST00000541252.2:c.791G>C ENSP00000438885.2:p.Trp264Ser
ENST00000541326.6:n.752G>C
ENST00000544997.6:c.1331G>C ENSP00000445778.2:p.Trp444Ser
ENST00000545896.2:c.20G>C ENSP00000440209.2:p.Trp7Ser
ENST00000546255.2:n.1635G>C
ENST00000698845.1:c.*526G>C ENSP00000513981.1:n.*526G>C
ENST00000698846.1:n.1577G>C
ENST00000698847.1:c.*736G>C ENSP00000513982.1:n.*736G>C
ENST00000698848.1:n.629G>C
ENST00000698849.1:n.451G>C
ENST00000698850.1:n.1099G>C
ENST00000698852.1:c.1331G>C ENSP00000513984.1:p.Trp444Ser
ENST00000698853.1:c.*560G>C ENSP00000513985.1:n.*560G>C
ENST00000698854.1:c.*661G>C ENSP00000513986.1:n.*661G>C
ENST00000698855.1:n.2983G>C
ENST00000698856.1:n.2677G>C
ENST00000698859.1:n.1495G>C
ENST00000698860.1:c.1343G>C ENSP00000513988.1:p.Trp448Ser
ENST00000698861.1:c.1331G>C ENSP00000513989.1:p.Trp444Ser
ENST00000698862.1:c.*627G>C ENSP00000513990.1:n.*627G>C
ENST00000698863.1:c.1331G>C ENSP00000513991.1:p.Trp444Ser
ENST00000698864.1:n.1546G>C
ENST00000698865.1:c.1352G>C ENSP00000513992.1:p.Trp451Ser
ENST00000698866.1:c.*845G>C ENSP00000513993.1:n.*845G>C
ENST00000698867.1:n.5306G>C
ENST00000698868.1:c.1196G>C ENSP00000513994.1:p.Trp399Ser
ENST00000698869.1:c.1311+129G>C ENSP00000513995.1:n.1311+129G>C
ENST00000698870.1:c.1331G>C ENSP00000513996.1:p.Trp444Ser
ENST00000698871.1:n.1854G>C
ENST00000698872.1:c.*120G>C ENSP00000513997.1:n.*120G>C
ENST00000698873.1:c.*526G>C ENSP00000513998.1:n.*526G>C
ENST00000698874.1:c.791G>C ENSP00000513999.1:p.Trp264Ser
ENST00000698875.1:n.1191G>C
ENST00000698876.1:n.1379G>C
ENST00000698877.1:n.899G>C
ENST00000698878.1:c.1325G>C ENSP00000514000.1:p.Trp442Ser
ENST00000698880.1:c.1199G>C
ENST00000345728.10:c.1331G>C MANE Select ENSP00000339950.5:p.Trp444Ser
ENST00000279227.9:c.1343G>C ENSP00000279227.5:p.Trp448Ser
ENST00000345728.9:c.1331G>C ENSP00000339950.5:p.Trp444Ser
ENST00000541326.5:n.747G>C
ENST00000545896.1:c.19G>C ENSP00000440209.1:p.Gly7Arg
NM_031471.5:c.1331G>C NP_113659.3:p.Trp444Ser
NM_178443.2:c.1343G>C , LRG_180t1:c.1343G>C NP_848537.1:p.Trp448Ser
XM_011545294.1:c.1343G>C XP_011543596.1:p.Trp448Ser
XM_011545295.1:c.803G>C XP_011543597.1:p.Trp268Ser
XM_011545296.1:c.803G>C XP_011543598.1:p.Trp268Ser
XM_011545294.3:c.1343G>C XP_011543596.1:p.Trp448Ser
XM_011545295.2:c.803G>C XP_011543597.1:p.Trp268Ser
XM_017018398.2:c.1331G>C XP_016873887.1:p.Trp444Ser
XM_017018399.1:c.791G>C XP_016873888.1:p.Trp264Ser
NM_031471.6:c.1331G>C MANE Select NP_113659.3:p.Trp444Ser
NM_001382361.1:c.1331G>C NP_001369290.1:p.Trp444Ser
NM_001382362.1:c.1343G>C NP_001369291.1:p.Trp448Ser
NM_001382363.1:c.791G>C NP_001369292.1:p.Trp264Ser
NM_001382364.1:c.803G>C NP_001369293.1:p.Trp268Ser
NM_001382448.1:c.1331G>C NP_001369377.1:p.Trp444Ser
NM_178443.3:c.1343G>C NP_848537.1:p.Trp448Ser