Canonical Allele Identifier: CA381087008
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220247T>C , CM000673.2:g.64220247T>C GRCh38
NC_000011.9:g.63987719T>C , CM000673.1:g.63987719T>C GRCh37
NC_000011.8:g.63744295T>C NCBI36
NG_016360.1:g.18568T>C , LRG_180:g.18568T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1244T>C ENSP00000279227.5:p.Val415Ala
ENST00000540554.2:n.2301T>C
ENST00000541252.2:c.692T>C ENSP00000438885.2:p.Val231Ala
ENST00000541326.6:n.544T>C
ENST00000544997.6:c.1232T>C ENSP00000445778.2:p.Val411Ala
ENST00000546255.2:n.1427T>C
ENST00000698845.1:c.*427T>C ENSP00000513981.1:n.*427T>C
ENST00000698846.1:n.1369T>C
ENST00000698847.1:c.*637T>C ENSP00000513982.1:n.*637T>C
ENST00000698848.1:n.421T>C
ENST00000698849.1:n.352T>C
ENST00000698850.1:n.891T>C
ENST00000698852.1:c.1232T>C ENSP00000513984.1:p.Val411Ala
ENST00000698853.1:c.*461T>C ENSP00000513985.1:n.*461T>C
ENST00000698854.1:c.*562T>C ENSP00000513986.1:n.*562T>C
ENST00000698855.1:n.2884T>C
ENST00000698856.1:n.2469T>C
ENST00000698859.1:n.1396T>C
ENST00000698860.1:c.1244T>C ENSP00000513988.1:p.Val415Ala
ENST00000698861.1:c.1232T>C ENSP00000513989.1:p.Val411Ala
ENST00000698862.1:c.*528T>C ENSP00000513990.1:n.*528T>C
ENST00000698863.1:c.1232T>C ENSP00000513991.1:p.Val411Ala
ENST00000698864.1:n.1338T>C
ENST00000698865.1:c.1253T>C ENSP00000513992.1:p.Val418Ala
ENST00000698866.1:c.*637T>C ENSP00000513993.1:n.*637T>C
ENST00000698867.1:n.5207T>C
ENST00000698868.1:c.1097T>C ENSP00000513994.1:p.Val366Ala
ENST00000698869.1:c.1232T>C ENSP00000513995.1:p.Val411Ala
ENST00000698870.1:c.1232T>C ENSP00000513996.1:p.Val411Ala
ENST00000698871.1:n.1755T>C
ENST00000698872.1:c.*21T>C ENSP00000513997.1:n.*21T>C
ENST00000698873.1:c.*427T>C ENSP00000513998.1:n.*427T>C
ENST00000698874.1:c.692T>C ENSP00000513999.1:p.Val231Ala
ENST00000698875.1:n.1092T>C
ENST00000698876.1:n.1171T>C
ENST00000698877.1:n.800T>C
ENST00000698878.1:c.1232T>C ENSP00000514000.1:p.Val411Ala
ENST00000698880.1:c.1072T>C
ENST00000345728.10:c.1232T>C MANE Select ENSP00000339950.5:p.Val411Ala
ENST00000279227.9:c.1244T>C ENSP00000279227.5:p.Val415Ala
ENST00000345728.9:c.1232T>C ENSP00000339950.5:p.Val411Ala
ENST00000540957.1:n.385T>C
ENST00000541326.5:n.539T>C
NM_031471.5:c.1232T>C NP_113659.3:p.Val411Ala
NM_178443.2:c.1244T>C , LRG_180t1:c.1244T>C NP_848537.1:p.Val415Ala
XM_011545294.1:c.1244T>C XP_011543596.1:p.Val415Ala
XM_011545295.1:c.704T>C XP_011543597.1:p.Val235Ala
XM_011545296.1:c.704T>C XP_011543598.1:p.Val235Ala
XM_011545294.3:c.1244T>C XP_011543596.1:p.Val415Ala
XM_011545295.2:c.704T>C XP_011543597.1:p.Val235Ala
XM_017018398.2:c.1232T>C XP_016873887.1:p.Val411Ala
XM_017018399.1:c.692T>C XP_016873888.1:p.Val231Ala
NM_031471.6:c.1232T>C MANE Select NP_113659.3:p.Val411Ala
NM_001382361.1:c.1232T>C NP_001369290.1:p.Val411Ala
NM_001382362.1:c.1244T>C NP_001369291.1:p.Val415Ala
NM_001382363.1:c.692T>C NP_001369292.1:p.Val231Ala
NM_001382364.1:c.704T>C NP_001369293.1:p.Val235Ala
NM_001382448.1:c.1232T>C NP_001369377.1:p.Val411Ala
NM_178443.3:c.1244T>C NP_848537.1:p.Val415Ala