Canonical Allele Identifier: CA381087136

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63987755C>T (hg19) ; chr11:g.64220283C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220283C>T , CM000673.2:g.64220283C>T	GRCh38
NC_000011.9:g.63987755C>T , CM000673.1:g.63987755C>T	GRCh37
NC_000011.8:g.63744331C>T	NCBI36
NG_016360.1:g.18604C>T , LRG_180:g.18604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1280C>T	ENSP00000279227.5:p.Pro427Leu
ENST00000540554.2:n.2337C>T
ENST00000541252.2:c.728C>T	ENSP00000438885.2:p.Pro243Leu
ENST00000541326.6:n.580C>T
ENST00000544997.6:c.1268C>T	ENSP00000445778.2:p.Pro423Leu
ENST00000546255.2:n.1463C>T
ENST00000698845.1:c.*463C>T	ENSP00000513981.1:n.*463C>T
ENST00000698846.1:n.1405C>T
ENST00000698847.1:c.*673C>T	ENSP00000513982.1:n.*673C>T
ENST00000698848.1:n.457C>T
ENST00000698849.1:n.388C>T
ENST00000698850.1:n.927C>T
ENST00000698852.1:c.1268C>T	ENSP00000513984.1:p.Pro423Leu
ENST00000698853.1:c.*497C>T	ENSP00000513985.1:n.*497C>T
ENST00000698854.1:c.*598C>T	ENSP00000513986.1:n.*598C>T
ENST00000698855.1:n.2920C>T
ENST00000698856.1:n.2505C>T
ENST00000698859.1:n.1432C>T
ENST00000698860.1:c.1280C>T	ENSP00000513988.1:p.Pro427Leu
ENST00000698861.1:c.1268C>T	ENSP00000513989.1:p.Pro423Leu
ENST00000698862.1:c.*564C>T	ENSP00000513990.1:n.*564C>T
ENST00000698863.1:c.1268C>T	ENSP00000513991.1:p.Pro423Leu
ENST00000698864.1:n.1374C>T
ENST00000698865.1:c.1289C>T	ENSP00000513992.1:p.Pro430Leu
ENST00000698866.1:c.*673C>T	ENSP00000513993.1:n.*673C>T
ENST00000698867.1:n.5243C>T
ENST00000698868.1:c.1133C>T	ENSP00000513994.1:p.Pro378Leu
ENST00000698869.1:c.1268C>T	ENSP00000513995.1:p.Pro423Leu
ENST00000698870.1:c.1268C>T	ENSP00000513996.1:p.Pro423Leu
ENST00000698871.1:n.1791C>T
ENST00000698872.1:c.*57C>T	ENSP00000513997.1:n.*57C>T
ENST00000698873.1:c.*463C>T	ENSP00000513998.1:n.*463C>T
ENST00000698874.1:c.728C>T	ENSP00000513999.1:p.Pro243Leu
ENST00000698875.1:n.1128C>T
ENST00000698876.1:n.1207C>T
ENST00000698877.1:n.836C>T
ENST00000698878.1:c.1268C>T	ENSP00000514000.1:p.Pro423Leu
ENST00000698880.1:c.1108C>T
ENST00000345728.10:c.1268C>T MANE Select	ENSP00000339950.5:p.Pro423Leu
ENST00000279227.9:c.1280C>T	ENSP00000279227.5:p.Pro427Leu
ENST00000345728.9:c.1268C>T	ENSP00000339950.5:p.Pro423Leu
ENST00000540957.1:n.421C>T
ENST00000541326.5:n.575C>T
NM_031471.5:c.1268C>T	NP_113659.3:p.Pro423Leu
NM_178443.2:c.1280C>T , LRG_180t1:c.1280C>T	NP_848537.1:p.Pro427Leu
XM_011545294.1:c.1280C>T	XP_011543596.1:p.Pro427Leu
XM_011545295.1:c.740C>T	XP_011543597.1:p.Pro247Leu
XM_011545296.1:c.740C>T	XP_011543598.1:p.Pro247Leu
XM_011545294.3:c.1280C>T	XP_011543596.1:p.Pro427Leu
XM_011545295.2:c.740C>T	XP_011543597.1:p.Pro247Leu
XM_017018398.2:c.1268C>T	XP_016873887.1:p.Pro423Leu
XM_017018399.1:c.728C>T	XP_016873888.1:p.Pro243Leu
NM_031471.6:c.1268C>T MANE Select	NP_113659.3:p.Pro423Leu
NM_001382361.1:c.1268C>T	NP_001369290.1:p.Pro423Leu
NM_001382362.1:c.1280C>T	NP_001369291.1:p.Pro427Leu
NM_001382363.1:c.728C>T	NP_001369292.1:p.Pro243Leu
NM_001382364.1:c.740C>T	NP_001369293.1:p.Pro247Leu
NM_001382448.1:c.1268C>T	NP_001369377.1:p.Pro423Leu
NM_178443.3:c.1280C>T	NP_848537.1:p.Pro427Leu