Canonical Allele Identifier: CA381088120

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63988076G>T (hg19) ; chr11:g.64220604G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220604G>T , CM000673.2:g.64220604G>T	GRCh38
NC_000011.9:g.63988076G>T , CM000673.1:g.63988076G>T	GRCh37
NC_000011.8:g.63744652G>T	NCBI36
NG_016360.1:g.18925G>T , LRG_180:g.18925G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1492G>T	ENSP00000279227.5:p.Ala498Ser
ENST00000540554.2:n.2658G>T
ENST00000541252.2:c.940G>T	ENSP00000438885.2:p.Ala314Ser
ENST00000541326.6:n.901G>T
ENST00000544997.6:c.1480G>T	ENSP00000445778.2:p.Ala494Ser
ENST00000545896.2:c.169G>T	ENSP00000440209.2:p.Ala57Ser
ENST00000546255.2:n.1784G>T
ENST00000698845.1:c.*675G>T	ENSP00000513981.1:n.*675G>T
ENST00000698846.1:n.1726G>T
ENST00000698847.1:c.*885G>T	ENSP00000513982.1:n.*885G>T
ENST00000698849.1:n.600G>T
ENST00000698850.1:n.1248G>T
ENST00000698852.1:c.1480G>T	ENSP00000513984.1:p.Ala494Ser
ENST00000698853.1:c.*709G>T	ENSP00000513985.1:n.*709G>T
ENST00000698854.1:c.*810G>T	ENSP00000513986.1:n.*810G>T
ENST00000698855.1:n.3132G>T
ENST00000698856.1:n.2826G>T
ENST00000698859.1:n.1644G>T
ENST00000698860.1:c.1492G>T	ENSP00000513988.1:p.Ala498Ser
ENST00000698861.1:c.1480G>T	ENSP00000513989.1:p.Ala494Ser
ENST00000698862.1:c.*776G>T	ENSP00000513990.1:n.*776G>T
ENST00000698863.1:c.1480G>T	ENSP00000513991.1:p.Ala494Ser
ENST00000698864.1:n.1695G>T
ENST00000698865.1:c.1501G>T	ENSP00000513992.1:p.Ala501Ser
ENST00000698866.1:c.*994G>T	ENSP00000513993.1:n.*994G>T
ENST00000698867.1:n.5455G>T
ENST00000698868.1:c.1345G>T	ENSP00000513994.1:p.Ala449Ser
ENST00000698869.1:c.1311+278G>T	ENSP00000513995.1:n.1311+278G>T
ENST00000698870.1:c.1480G>T	ENSP00000513996.1:p.Ala494Ser
ENST00000698871.1:n.2003G>T
ENST00000698872.1:c.*269G>T	ENSP00000513997.1:n.*269G>T
ENST00000698873.1:c.*675G>T	ENSP00000513998.1:n.*675G>T
ENST00000698874.1:c.940G>T	ENSP00000513999.1:p.Ala314Ser
ENST00000698875.1:n.1340G>T
ENST00000698876.1:n.1528G>T
ENST00000698877.1:n.1048G>T
ENST00000698878.1:c.1474G>T	ENSP00000514000.1:p.Ala492Ser
ENST00000698880.1:c.1348G>T
ENST00000345728.10:c.1480G>T MANE Select	ENSP00000339950.5:p.Ala494Ser
ENST00000279227.9:c.1492G>T	ENSP00000279227.5:p.Ala498Ser
ENST00000345728.9:c.1480G>T	ENSP00000339950.5:p.Ala494Ser
ENST00000545896.1:c.168G>T	ENSP00000440209.1:p.Leu56=
NM_031471.5:c.1480G>T	NP_113659.3:p.Ala494Ser
NM_178443.2:c.1492G>T , LRG_180t1:c.1492G>T	NP_848537.1:p.Ala498Ser
XM_011545294.1:c.1492G>T	XP_011543596.1:p.Ala498Ser
XM_011545295.1:c.952G>T	XP_011543597.1:p.Ala318Ser
XM_011545296.1:c.952G>T	XP_011543598.1:p.Ala318Ser
XM_011545294.3:c.1492G>T	XP_011543596.1:p.Ala498Ser
XM_011545295.2:c.952G>T	XP_011543597.1:p.Ala318Ser
XM_017018398.2:c.1480G>T	XP_016873887.1:p.Ala494Ser
XM_017018399.1:c.940G>T	XP_016873888.1:p.Ala314Ser
NM_031471.6:c.1480G>T MANE Select	NP_113659.3:p.Ala494Ser
NM_001382361.1:c.1480G>T	NP_001369290.1:p.Ala494Ser
NM_001382362.1:c.1492G>T	NP_001369291.1:p.Ala498Ser
NM_001382363.1:c.940G>T	NP_001369292.1:p.Ala314Ser
NM_001382364.1:c.952G>T	NP_001369293.1:p.Ala318Ser
NM_001382448.1:c.1480G>T	NP_001369377.1:p.Ala494Ser
NM_178443.3:c.1492G>T	NP_848537.1:p.Ala498Ser