Canonical Allele Identifier: CA381087814

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220550-C-T
• MyVariant Identifiers: chr11:g.63988022C>T (hg19) ; chr11:g.64220550C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220550C>T , CM000673.2:g.64220550C>T	GRCh38
NC_000011.9:g.63988022C>T , CM000673.1:g.63988022C>T	GRCh37
NC_000011.8:g.63744598C>T	NCBI36
NG_016360.1:g.18871C>T , LRG_180:g.18871C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1438C>T	ENSP00000279227.5:p.Gln480Ter
ENST00000540554.2:n.2604C>T
ENST00000541252.2:c.886C>T	ENSP00000438885.2:p.Gln296Ter
ENST00000541326.6:n.847C>T
ENST00000544997.6:c.1426C>T	ENSP00000445778.2:p.Gln476Ter
ENST00000545896.2:c.115C>T	ENSP00000440209.2:p.Gln39Ter
ENST00000546255.2:n.1730C>T
ENST00000698845.1:c.*621C>T	ENSP00000513981.1:n.*621C>T
ENST00000698846.1:n.1672C>T
ENST00000698847.1:c.*831C>T	ENSP00000513982.1:n.*831C>T
ENST00000698849.1:n.546C>T
ENST00000698850.1:n.1194C>T
ENST00000698852.1:c.1426C>T	ENSP00000513984.1:p.Gln476Ter
ENST00000698853.1:c.*655C>T	ENSP00000513985.1:n.*655C>T
ENST00000698854.1:c.*756C>T	ENSP00000513986.1:n.*756C>T
ENST00000698855.1:n.3078C>T
ENST00000698856.1:n.2772C>T
ENST00000698859.1:n.1590C>T
ENST00000698860.1:c.1438C>T	ENSP00000513988.1:p.Gln480Ter
ENST00000698861.1:c.1426C>T	ENSP00000513989.1:p.Gln476Ter
ENST00000698862.1:c.*722C>T	ENSP00000513990.1:n.*722C>T
ENST00000698863.1:c.1426C>T	ENSP00000513991.1:p.Gln476Ter
ENST00000698864.1:n.1641C>T
ENST00000698865.1:c.1447C>T	ENSP00000513992.1:p.Gln483Ter
ENST00000698866.1:c.*940C>T	ENSP00000513993.1:n.*940C>T
ENST00000698867.1:n.5401C>T
ENST00000698868.1:c.1291C>T	ENSP00000513994.1:p.Gln431Ter
ENST00000698869.1:c.1311+224C>T	ENSP00000513995.1:n.1311+224C>T
ENST00000698870.1:c.1426C>T	ENSP00000513996.1:p.Gln476Ter
ENST00000698871.1:n.1949C>T
ENST00000698872.1:c.*215C>T	ENSP00000513997.1:n.*215C>T
ENST00000698873.1:c.*621C>T	ENSP00000513998.1:n.*621C>T
ENST00000698874.1:c.886C>T	ENSP00000513999.1:p.Gln296Ter
ENST00000698875.1:n.1286C>T
ENST00000698876.1:n.1474C>T
ENST00000698877.1:n.994C>T
ENST00000698878.1:c.1420C>T	ENSP00000514000.1:p.Gln474Ter
ENST00000698880.1:c.1294C>T
ENST00000345728.10:c.1426C>T MANE Select	ENSP00000339950.5:p.Gln476Ter
ENST00000279227.9:c.1438C>T	ENSP00000279227.5:p.Gln480Ter
ENST00000345728.9:c.1426C>T	ENSP00000339950.5:p.Gln476Ter
ENST00000541326.5:n.842C>T
ENST00000545896.1:c.114C>T	ENSP00000440209.1:p.Cys38=
NM_031471.5:c.1426C>T	NP_113659.3:p.Gln476Ter
NM_178443.2:c.1438C>T , LRG_180t1:c.1438C>T	NP_848537.1:p.Gln480Ter
XM_011545294.1:c.1438C>T	XP_011543596.1:p.Gln480Ter
XM_011545295.1:c.898C>T	XP_011543597.1:p.Gln300Ter
XM_011545296.1:c.898C>T	XP_011543598.1:p.Gln300Ter
XM_011545294.3:c.1438C>T	XP_011543596.1:p.Gln480Ter
XM_011545295.2:c.898C>T	XP_011543597.1:p.Gln300Ter
XM_017018398.2:c.1426C>T	XP_016873887.1:p.Gln476Ter
XM_017018399.1:c.886C>T	XP_016873888.1:p.Gln296Ter
NM_031471.6:c.1426C>T MANE Select	NP_113659.3:p.Gln476Ter
NM_001382361.1:c.1426C>T	NP_001369290.1:p.Gln476Ter
NM_001382362.1:c.1438C>T	NP_001369291.1:p.Gln480Ter
NM_001382363.1:c.886C>T	NP_001369292.1:p.Gln296Ter
NM_001382364.1:c.898C>T	NP_001369293.1:p.Gln300Ter
NM_001382448.1:c.1426C>T	NP_001369377.1:p.Gln476Ter
NM_178443.3:c.1438C>T	NP_848537.1:p.Gln480Ter