Canonical Allele Identifier: CA475151799

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63990571G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223099G>T , CM000673.2:g.64223099G>T	GRCh38
NC_000011.9:g.63990571G>T , CM000673.1:g.63990571G>T	GRCh37
NC_000011.8:g.63747147G>T	NCBI36
NG_016360.1:g.21420G>T , LRG_180:g.21420G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1734G>T	ENSP00000279227.5:p.Leu578=
ENST00000540554.2:n.3246G>T
ENST00000541252.2:c.1182G>T	ENSP00000438885.2:p.Leu394=
ENST00000544997.6:c.1722G>T	ENSP00000445778.2:p.Leu574=
ENST00000545896.2:c.286G>T	ENSP00000440209.2:p.Asp96Tyr
ENST00000546255.2:n.2026G>T
ENST00000698845.1:c.*917G>T	ENSP00000513981.1:n.*917G>T
ENST00000698846.1:n.1968G>T
ENST00000698847.1:c.*1127G>T	ENSP00000513982.1:n.*1127G>T
ENST00000698850.1:n.3743G>T
ENST00000698852.1:c.1722G>T	ENSP00000513984.1:p.Leu574=
ENST00000698853.1:c.*951G>T	ENSP00000513985.1:n.*951G>T
ENST00000698854.1:c.*1052G>T	ENSP00000513986.1:n.*1052G>T
ENST00000698855.1:n.3374G>T
ENST00000698856.1:n.3068G>T
ENST00000698859.1:n.2232G>T
ENST00000698860.1:c.1734G>T	ENSP00000513988.1:p.Leu578=
ENST00000698861.1:c.1722G>T	ENSP00000513989.1:p.Leu574=
ENST00000698862.1:c.*1018G>T	ENSP00000513990.1:n.*1018G>T
ENST00000698863.1:c.1722G>T	ENSP00000513991.1:p.Leu574=
ENST00000698864.1:n.2283G>T
ENST00000698865.1:c.1743G>T	ENSP00000513992.1:p.Leu581=
ENST00000698866.1:c.*1510G>T	ENSP00000513993.1:n.*1510G>T
ENST00000698867.1:n.5697G>T
ENST00000698868.1:c.1587G>T	ENSP00000513994.1:p.Leu529=
ENST00000698869.1:c.1488G>T	ENSP00000513995.1:p.Leu496=
ENST00000698870.1:c.1722G>T	ENSP00000513996.1:p.Leu574=
ENST00000698871.1:n.2245G>T
ENST00000698872.1:c.*511G>T	ENSP00000513997.1:n.*511G>T
ENST00000698873.1:c.*917G>T	ENSP00000513998.1:n.*917G>T
ENST00000698874.1:c.1182G>T	ENSP00000513999.1:p.Leu394=
ENST00000698875.1:n.1582G>T
ENST00000698876.1:n.1770G>T
ENST00000698877.1:n.1290G>T
ENST00000698878.1:c.1716G>T	ENSP00000514000.1:p.Leu572=
ENST00000698880.1:c.1590G>T
ENST00000345728.10:c.1722G>T MANE Select	ENSP00000339950.5:p.Leu574=
ENST00000279227.9:c.1734G>T	ENSP00000279227.5:p.Leu578=
ENST00000345728.9:c.1722G>T	ENSP00000339950.5:p.Leu574=
ENST00000540554.1:n.358G>T
ENST00000545896.1:c.285G>T	ENSP00000440209.1:p.Leu95=
NM_031471.5:c.1722G>T	NP_113659.3:p.Leu574=
NM_178443.2:c.1734G>T , LRG_180t1:c.1734G>T	NP_848537.1:p.Leu578=
XM_011545294.1:c.1734G>T	XP_011543596.1:p.Leu578=
XM_011545295.1:c.1194G>T	XP_011543597.1:p.Leu398=
XM_011545296.1:c.1194G>T	XP_011543598.1:p.Leu398=
XM_011545294.3:c.1734G>T	XP_011543596.1:p.Leu578=
XM_011545295.2:c.1194G>T	XP_011543597.1:p.Leu398=
XM_017018398.2:c.1722G>T	XP_016873887.1:p.Leu574=
XM_017018399.1:c.1182G>T	XP_016873888.1:p.Leu394=
NM_031471.6:c.1722G>T MANE Select	NP_113659.3:p.Leu574=
NM_001382361.1:c.1722G>T	NP_001369290.1:p.Leu574=
NM_001382362.1:c.1734G>T	NP_001369291.1:p.Leu578=
NM_001382363.1:c.1182G>T	NP_001369292.1:p.Leu394=
NM_001382364.1:c.1194G>T	NP_001369293.1:p.Leu398=
NM_001382448.1:c.1722G>T	NP_001369377.1:p.Leu574=
NM_178443.3:c.1734G>T	NP_848537.1:p.Leu578=