Canonical Allele Identifier: CA381087030
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220255C>A , CM000673.2:g.64220255C>A GRCh38
NC_000011.9:g.63987727C>A , CM000673.1:g.63987727C>A GRCh37
NC_000011.8:g.63744303C>A NCBI36
NG_016360.1:g.18576C>A , LRG_180:g.18576C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1252C>A ENSP00000279227.5:p.Gln418Lys
ENST00000540554.2:n.2309C>A
ENST00000541252.2:c.700C>A ENSP00000438885.2:p.Gln234Lys
ENST00000541326.6:n.552C>A
ENST00000544997.6:c.1240C>A ENSP00000445778.2:p.Gln414Lys
ENST00000546255.2:n.1435C>A
ENST00000698845.1:c.*435C>A ENSP00000513981.1:n.*435C>A
ENST00000698846.1:n.1377C>A
ENST00000698847.1:c.*645C>A ENSP00000513982.1:n.*645C>A
ENST00000698848.1:n.429C>A
ENST00000698849.1:n.360C>A
ENST00000698850.1:n.899C>A
ENST00000698852.1:c.1240C>A ENSP00000513984.1:p.Gln414Lys
ENST00000698853.1:c.*469C>A ENSP00000513985.1:n.*469C>A
ENST00000698854.1:c.*570C>A ENSP00000513986.1:n.*570C>A
ENST00000698855.1:n.2892C>A
ENST00000698856.1:n.2477C>A
ENST00000698859.1:n.1404C>A
ENST00000698860.1:c.1252C>A ENSP00000513988.1:p.Gln418Lys
ENST00000698861.1:c.1240C>A ENSP00000513989.1:p.Gln414Lys
ENST00000698862.1:c.*536C>A ENSP00000513990.1:n.*536C>A
ENST00000698863.1:c.1240C>A ENSP00000513991.1:p.Gln414Lys
ENST00000698864.1:n.1346C>A
ENST00000698865.1:c.1261C>A ENSP00000513992.1:p.Gln421Lys
ENST00000698866.1:c.*645C>A ENSP00000513993.1:n.*645C>A
ENST00000698867.1:n.5215C>A
ENST00000698868.1:c.1105C>A ENSP00000513994.1:p.Gln369Lys
ENST00000698869.1:c.1240C>A ENSP00000513995.1:p.Gln414Lys
ENST00000698870.1:c.1240C>A ENSP00000513996.1:p.Gln414Lys
ENST00000698871.1:n.1763C>A
ENST00000698872.1:c.*29C>A ENSP00000513997.1:n.*29C>A
ENST00000698873.1:c.*435C>A ENSP00000513998.1:n.*435C>A
ENST00000698874.1:c.700C>A ENSP00000513999.1:p.Gln234Lys
ENST00000698875.1:n.1100C>A
ENST00000698876.1:n.1179C>A
ENST00000698877.1:n.808C>A
ENST00000698878.1:c.1240C>A ENSP00000514000.1:p.Gln414Lys
ENST00000698880.1:c.1080C>A
ENST00000345728.10:c.1240C>A MANE Select ENSP00000339950.5:p.Gln414Lys
ENST00000279227.9:c.1252C>A ENSP00000279227.5:p.Gln418Lys
ENST00000345728.9:c.1240C>A ENSP00000339950.5:p.Gln414Lys
ENST00000540957.1:n.393C>A
ENST00000541326.5:n.547C>A
NM_031471.5:c.1240C>A NP_113659.3:p.Gln414Lys
NM_178443.2:c.1252C>A , LRG_180t1:c.1252C>A NP_848537.1:p.Gln418Lys
XM_011545294.1:c.1252C>A XP_011543596.1:p.Gln418Lys
XM_011545295.1:c.712C>A XP_011543597.1:p.Gln238Lys
XM_011545296.1:c.712C>A XP_011543598.1:p.Gln238Lys
XM_011545294.3:c.1252C>A XP_011543596.1:p.Gln418Lys
XM_011545295.2:c.712C>A XP_011543597.1:p.Gln238Lys
XM_017018398.2:c.1240C>A XP_016873887.1:p.Gln414Lys
XM_017018399.1:c.700C>A XP_016873888.1:p.Gln234Lys
NM_031471.6:c.1240C>A MANE Select NP_113659.3:p.Gln414Lys
NM_001382361.1:c.1240C>A NP_001369290.1:p.Gln414Lys
NM_001382362.1:c.1252C>A NP_001369291.1:p.Gln418Lys
NM_001382363.1:c.700C>A NP_001369292.1:p.Gln234Lys
NM_001382364.1:c.712C>A NP_001369293.1:p.Gln238Lys
NM_001382448.1:c.1240C>A NP_001369377.1:p.Gln414Lys
NM_178443.3:c.1252C>A NP_848537.1:p.Gln418Lys