Canonical Allele Identifier: CA381087473

Gene: FERMT3

Linked Data

• dbSNP Id: rs771275085
• gnomAD v2: 11-63987942-G-T
• gnomAD v4: 11-64220470-G-T
• MyVariant Identifiers: chr11:g.63987942G>T (hg19) ; chr11:g.64220470G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220470G>T , CM000673.2:g.64220470G>T	GRCh38
NC_000011.9:g.63987942G>T , CM000673.1:g.63987942G>T	GRCh37
NC_000011.8:g.63744518G>T	NCBI36
NG_016360.1:g.18791G>T , LRG_180:g.18791G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1358G>T	ENSP00000279227.5:p.Arg453Leu
ENST00000540554.2:n.2524G>T
ENST00000541252.2:c.806G>T	ENSP00000438885.2:p.Arg269Leu
ENST00000541326.6:n.767G>T
ENST00000544997.6:c.1346G>T	ENSP00000445778.2:p.Arg449Leu
ENST00000545896.2:c.35G>T	ENSP00000440209.2:p.Arg12Leu
ENST00000546255.2:n.1650G>T
ENST00000698845.1:c.*541G>T	ENSP00000513981.1:n.*541G>T
ENST00000698846.1:n.1592G>T
ENST00000698847.1:c.*751G>T	ENSP00000513982.1:n.*751G>T
ENST00000698848.1:n.644G>T
ENST00000698849.1:n.466G>T
ENST00000698850.1:n.1114G>T
ENST00000698852.1:c.1346G>T	ENSP00000513984.1:p.Arg449Leu
ENST00000698853.1:c.*575G>T	ENSP00000513985.1:n.*575G>T
ENST00000698854.1:c.*676G>T	ENSP00000513986.1:n.*676G>T
ENST00000698855.1:n.2998G>T
ENST00000698856.1:n.2692G>T
ENST00000698859.1:n.1510G>T
ENST00000698860.1:c.1358G>T	ENSP00000513988.1:p.Arg453Leu
ENST00000698861.1:c.1346G>T	ENSP00000513989.1:p.Arg449Leu
ENST00000698862.1:c.*642G>T	ENSP00000513990.1:n.*642G>T
ENST00000698863.1:c.1346G>T	ENSP00000513991.1:p.Arg449Leu
ENST00000698864.1:n.1561G>T
ENST00000698865.1:c.1367G>T	ENSP00000513992.1:p.Arg456Leu
ENST00000698866.1:c.*860G>T	ENSP00000513993.1:n.*860G>T
ENST00000698867.1:n.5321G>T
ENST00000698868.1:c.1211G>T	ENSP00000513994.1:p.Arg404Leu
ENST00000698869.1:c.1311+144G>T	ENSP00000513995.1:n.1311+144G>T
ENST00000698870.1:c.1346G>T	ENSP00000513996.1:p.Arg449Leu
ENST00000698871.1:n.1869G>T
ENST00000698872.1:c.*135G>T	ENSP00000513997.1:n.*135G>T
ENST00000698873.1:c.*541G>T	ENSP00000513998.1:n.*541G>T
ENST00000698874.1:c.806G>T	ENSP00000513999.1:p.Arg269Leu
ENST00000698875.1:n.1206G>T
ENST00000698876.1:n.1394G>T
ENST00000698877.1:n.914G>T
ENST00000698878.1:c.1340G>T	ENSP00000514000.1:p.Arg447Leu
ENST00000698880.1:c.1214G>T
ENST00000345728.10:c.1346G>T MANE Select	ENSP00000339950.5:p.Arg449Leu
ENST00000279227.9:c.1358G>T	ENSP00000279227.5:p.Arg453Leu
ENST00000345728.9:c.1346G>T	ENSP00000339950.5:p.Arg449Leu
ENST00000541326.5:n.762G>T
ENST00000545896.1:c.34G>T	ENSP00000440209.1:p.Ala12Ser
NM_031471.5:c.1346G>T	NP_113659.3:p.Arg449Leu
NM_178443.2:c.1358G>T , LRG_180t1:c.1358G>T	NP_848537.1:p.Arg453Leu
XM_011545294.1:c.1358G>T	XP_011543596.1:p.Arg453Leu
XM_011545295.1:c.818G>T	XP_011543597.1:p.Arg273Leu
XM_011545296.1:c.818G>T	XP_011543598.1:p.Arg273Leu
XM_011545294.3:c.1358G>T	XP_011543596.1:p.Arg453Leu
XM_011545295.2:c.818G>T	XP_011543597.1:p.Arg273Leu
XM_017018398.2:c.1346G>T	XP_016873887.1:p.Arg449Leu
XM_017018399.1:c.806G>T	XP_016873888.1:p.Arg269Leu
NM_031471.6:c.1346G>T MANE Select	NP_113659.3:p.Arg449Leu
NM_001382361.1:c.1346G>T	NP_001369290.1:p.Arg449Leu
NM_001382362.1:c.1358G>T	NP_001369291.1:p.Arg453Leu
NM_001382363.1:c.806G>T	NP_001369292.1:p.Arg269Leu
NM_001382364.1:c.818G>T	NP_001369293.1:p.Arg273Leu
NM_001382448.1:c.1346G>T	NP_001369377.1:p.Arg449Leu
NM_178443.3:c.1358G>T	NP_848537.1:p.Arg453Leu