Canonical Allele Identifier: CA381087917

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220573-G-T
• MyVariant Identifiers: chr11:g.63988045G>T (hg19) ; chr11:g.64220573G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220573G>T , CM000673.2:g.64220573G>T	GRCh38
NC_000011.9:g.63988045G>T , CM000673.1:g.63988045G>T	GRCh37
NC_000011.8:g.63744621G>T	NCBI36
NG_016360.1:g.18894G>T , LRG_180:g.18894G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1461G>T	ENSP00000279227.5:p.Pro487=
ENST00000540554.2:n.2627G>T
ENST00000541252.2:c.909G>T	ENSP00000438885.2:p.Pro303=
ENST00000541326.6:n.870G>T
ENST00000544997.6:c.1449G>T	ENSP00000445778.2:p.Pro483=
ENST00000545896.2:c.138G>T	ENSP00000440209.2:p.Pro46=
ENST00000546255.2:n.1753G>T
ENST00000698845.1:c.*644G>T	ENSP00000513981.1:n.*644G>T
ENST00000698846.1:n.1695G>T
ENST00000698847.1:c.*854G>T	ENSP00000513982.1:n.*854G>T
ENST00000698849.1:n.569G>T
ENST00000698850.1:n.1217G>T
ENST00000698852.1:c.1449G>T	ENSP00000513984.1:p.Pro483=
ENST00000698853.1:c.*678G>T	ENSP00000513985.1:n.*678G>T
ENST00000698854.1:c.*779G>T	ENSP00000513986.1:n.*779G>T
ENST00000698855.1:n.3101G>T
ENST00000698856.1:n.2795G>T
ENST00000698859.1:n.1613G>T
ENST00000698860.1:c.1461G>T	ENSP00000513988.1:p.Pro487=
ENST00000698861.1:c.1449G>T	ENSP00000513989.1:p.Pro483=
ENST00000698862.1:c.*745G>T	ENSP00000513990.1:n.*745G>T
ENST00000698863.1:c.1449G>T	ENSP00000513991.1:p.Pro483=
ENST00000698864.1:n.1664G>T
ENST00000698865.1:c.1470G>T	ENSP00000513992.1:p.Pro490=
ENST00000698866.1:c.*963G>T	ENSP00000513993.1:n.*963G>T
ENST00000698867.1:n.5424G>T
ENST00000698868.1:c.1314G>T	ENSP00000513994.1:p.Pro438=
ENST00000698869.1:c.1311+247G>T	ENSP00000513995.1:n.1311+247G>T
ENST00000698870.1:c.1449G>T	ENSP00000513996.1:p.Pro483=
ENST00000698871.1:n.1972G>T
ENST00000698872.1:c.*238G>T	ENSP00000513997.1:n.*238G>T
ENST00000698873.1:c.*644G>T	ENSP00000513998.1:n.*644G>T
ENST00000698874.1:c.909G>T	ENSP00000513999.1:p.Pro303=
ENST00000698875.1:n.1309G>T
ENST00000698876.1:n.1497G>T
ENST00000698877.1:n.1017G>T
ENST00000698878.1:c.1443G>T	ENSP00000514000.1:p.Pro481=
ENST00000698880.1:c.1317G>T
ENST00000345728.10:c.1449G>T MANE Select	ENSP00000339950.5:p.Pro483=
ENST00000279227.9:c.1461G>T	ENSP00000279227.5:p.Pro487=
ENST00000345728.9:c.1449G>T	ENSP00000339950.5:p.Pro483=
ENST00000541326.5:n.865G>T
ENST00000545896.1:c.137G>T	ENSP00000440209.1:p.Arg46Leu
NM_031471.5:c.1449G>T	NP_113659.3:p.Pro483=
NM_178443.2:c.1461G>T , LRG_180t1:c.1461G>T	NP_848537.1:p.Pro487=
XM_011545294.1:c.1461G>T	XP_011543596.1:p.Pro487=
XM_011545295.1:c.921G>T	XP_011543597.1:p.Pro307=
XM_011545296.1:c.921G>T	XP_011543598.1:p.Pro307=
XM_011545294.3:c.1461G>T	XP_011543596.1:p.Pro487=
XM_011545295.2:c.921G>T	XP_011543597.1:p.Pro307=
XM_017018398.2:c.1449G>T	XP_016873887.1:p.Pro483=
XM_017018399.1:c.909G>T	XP_016873888.1:p.Pro303=
NM_031471.6:c.1449G>T MANE Select	NP_113659.3:p.Pro483=
NM_001382361.1:c.1449G>T	NP_001369290.1:p.Pro483=
NM_001382362.1:c.1461G>T	NP_001369291.1:p.Pro487=
NM_001382363.1:c.909G>T	NP_001369292.1:p.Pro303=
NM_001382364.1:c.921G>T	NP_001369293.1:p.Pro307=
NM_001382448.1:c.1449G>T	NP_001369377.1:p.Pro483=
NM_178443.3:c.1461G>T	NP_848537.1:p.Pro487=