Canonical Allele Identifier: CA381086969
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220235C>T , CM000673.2:g.64220235C>T GRCh38
NC_000011.9:g.63987707C>T , CM000673.1:g.63987707C>T GRCh37
NC_000011.8:g.63744283C>T NCBI36
NG_016360.1:g.18556C>T , LRG_180:g.18556C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1232C>T ENSP00000279227.5:p.Pro411Leu
ENST00000540554.2:n.2289C>T
ENST00000541252.2:c.680C>T ENSP00000438885.2:p.Pro227Leu
ENST00000541326.6:n.532C>T
ENST00000544997.6:c.1220C>T ENSP00000445778.2:p.Pro407Leu
ENST00000546255.2:n.1415C>T
ENST00000698845.1:c.*415C>T ENSP00000513981.1:n.*415C>T
ENST00000698846.1:n.1357C>T
ENST00000698847.1:c.*625C>T ENSP00000513982.1:n.*625C>T
ENST00000698848.1:n.409C>T
ENST00000698849.1:n.340C>T
ENST00000698850.1:n.879C>T
ENST00000698852.1:c.1220C>T ENSP00000513984.1:p.Pro407Leu
ENST00000698853.1:c.*449C>T ENSP00000513985.1:n.*449C>T
ENST00000698854.1:c.*550C>T ENSP00000513986.1:n.*550C>T
ENST00000698855.1:n.2872C>T
ENST00000698856.1:n.2457C>T
ENST00000698859.1:n.1384C>T
ENST00000698860.1:c.1232C>T ENSP00000513988.1:p.Pro411Leu
ENST00000698861.1:c.1220C>T ENSP00000513989.1:p.Pro407Leu
ENST00000698862.1:c.*516C>T ENSP00000513990.1:n.*516C>T
ENST00000698863.1:c.1220C>T ENSP00000513991.1:p.Pro407Leu
ENST00000698864.1:n.1326C>T
ENST00000698865.1:c.1241C>T ENSP00000513992.1:p.Pro414Leu
ENST00000698866.1:c.*625C>T ENSP00000513993.1:n.*625C>T
ENST00000698867.1:n.5195C>T
ENST00000698868.1:c.1085C>T ENSP00000513994.1:p.Pro362Leu
ENST00000698869.1:c.1220C>T ENSP00000513995.1:p.Pro407Leu
ENST00000698870.1:c.1220C>T ENSP00000513996.1:p.Pro407Leu
ENST00000698871.1:n.1743C>T
ENST00000698872.1:c.*9C>T ENSP00000513997.1:n.*9C>T
ENST00000698873.1:c.*415C>T ENSP00000513998.1:n.*415C>T
ENST00000698874.1:c.680C>T ENSP00000513999.1:p.Pro227Leu
ENST00000698875.1:n.1080C>T
ENST00000698876.1:n.1159C>T
ENST00000698877.1:n.788C>T
ENST00000698878.1:c.1220C>T ENSP00000514000.1:p.Pro407Leu
ENST00000698880.1:c.1060C>T
ENST00000345728.10:c.1220C>T MANE Select ENSP00000339950.5:p.Pro407Leu
ENST00000279227.9:c.1232C>T ENSP00000279227.5:p.Pro411Leu
ENST00000345728.9:c.1220C>T ENSP00000339950.5:p.Pro407Leu
ENST00000540957.1:n.373C>T
ENST00000541326.5:n.527C>T
NM_031471.5:c.1220C>T NP_113659.3:p.Pro407Leu
NM_178443.2:c.1232C>T , LRG_180t1:c.1232C>T NP_848537.1:p.Pro411Leu
XM_011545294.1:c.1232C>T XP_011543596.1:p.Pro411Leu
XM_011545295.1:c.692C>T XP_011543597.1:p.Pro231Leu
XM_011545296.1:c.692C>T XP_011543598.1:p.Pro231Leu
XM_011545294.3:c.1232C>T XP_011543596.1:p.Pro411Leu
XM_011545295.2:c.692C>T XP_011543597.1:p.Pro231Leu
XM_017018398.2:c.1220C>T XP_016873887.1:p.Pro407Leu
XM_017018399.1:c.680C>T XP_016873888.1:p.Pro227Leu
NM_031471.6:c.1220C>T MANE Select NP_113659.3:p.Pro407Leu
NM_001382361.1:c.1220C>T NP_001369290.1:p.Pro407Leu
NM_001382362.1:c.1232C>T NP_001369291.1:p.Pro411Leu
NM_001382363.1:c.680C>T NP_001369292.1:p.Pro227Leu
NM_001382364.1:c.692C>T NP_001369293.1:p.Pro231Leu
NM_001382448.1:c.1220C>T NP_001369377.1:p.Pro407Leu
NM_178443.3:c.1232C>T NP_848537.1:p.Pro411Leu