Canonical Allele Identifier: CA381087430

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63987932G>C (hg19) ; chr11:g.64220460G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220460G>C , CM000673.2:g.64220460G>C	GRCh38
NC_000011.9:g.63987932G>C , CM000673.1:g.63987932G>C	GRCh37
NC_000011.8:g.63744508G>C	NCBI36
NG_016360.1:g.18781G>C , LRG_180:g.18781G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1348G>C	ENSP00000279227.5:p.Ala450Pro
ENST00000540554.2:n.2514G>C
ENST00000541252.2:c.796G>C	ENSP00000438885.2:p.Ala266Pro
ENST00000541326.6:n.757G>C
ENST00000544997.6:c.1336G>C	ENSP00000445778.2:p.Ala446Pro
ENST00000545896.2:c.25G>C	ENSP00000440209.2:p.Ala9Pro
ENST00000546255.2:n.1640G>C
ENST00000698845.1:c.*531G>C	ENSP00000513981.1:n.*531G>C
ENST00000698846.1:n.1582G>C
ENST00000698847.1:c.*741G>C	ENSP00000513982.1:n.*741G>C
ENST00000698848.1:n.634G>C
ENST00000698849.1:n.456G>C
ENST00000698850.1:n.1104G>C
ENST00000698852.1:c.1336G>C	ENSP00000513984.1:p.Ala446Pro
ENST00000698853.1:c.*565G>C	ENSP00000513985.1:n.*565G>C
ENST00000698854.1:c.*666G>C	ENSP00000513986.1:n.*666G>C
ENST00000698855.1:n.2988G>C
ENST00000698856.1:n.2682G>C
ENST00000698859.1:n.1500G>C
ENST00000698860.1:c.1348G>C	ENSP00000513988.1:p.Ala450Pro
ENST00000698861.1:c.1336G>C	ENSP00000513989.1:p.Ala446Pro
ENST00000698862.1:c.*632G>C	ENSP00000513990.1:n.*632G>C
ENST00000698863.1:c.1336G>C	ENSP00000513991.1:p.Ala446Pro
ENST00000698864.1:n.1551G>C
ENST00000698865.1:c.1357G>C	ENSP00000513992.1:p.Ala453Pro
ENST00000698866.1:c.*850G>C	ENSP00000513993.1:n.*850G>C
ENST00000698867.1:n.5311G>C
ENST00000698868.1:c.1201G>C	ENSP00000513994.1:p.Ala401Pro
ENST00000698869.1:c.1311+134G>C	ENSP00000513995.1:n.1311+134G>C
ENST00000698870.1:c.1336G>C	ENSP00000513996.1:p.Ala446Pro
ENST00000698871.1:n.1859G>C
ENST00000698872.1:c.*125G>C	ENSP00000513997.1:n.*125G>C
ENST00000698873.1:c.*531G>C	ENSP00000513998.1:n.*531G>C
ENST00000698874.1:c.796G>C	ENSP00000513999.1:p.Ala266Pro
ENST00000698875.1:n.1196G>C
ENST00000698876.1:n.1384G>C
ENST00000698877.1:n.904G>C
ENST00000698878.1:c.1330G>C	ENSP00000514000.1:p.Ala444Pro
ENST00000698880.1:c.1204G>C
ENST00000345728.10:c.1336G>C MANE Select	ENSP00000339950.5:p.Ala446Pro
ENST00000279227.9:c.1348G>C	ENSP00000279227.5:p.Ala450Pro
ENST00000345728.9:c.1336G>C	ENSP00000339950.5:p.Ala446Pro
ENST00000541326.5:n.752G>C
ENST00000545896.1:c.24G>C	ENSP00000440209.1:p.Trp8Cys
NM_031471.5:c.1336G>C	NP_113659.3:p.Ala446Pro
NM_178443.2:c.1348G>C , LRG_180t1:c.1348G>C	NP_848537.1:p.Ala450Pro
XM_011545294.1:c.1348G>C	XP_011543596.1:p.Ala450Pro
XM_011545295.1:c.808G>C	XP_011543597.1:p.Ala270Pro
XM_011545296.1:c.808G>C	XP_011543598.1:p.Ala270Pro
XM_011545294.3:c.1348G>C	XP_011543596.1:p.Ala450Pro
XM_011545295.2:c.808G>C	XP_011543597.1:p.Ala270Pro
XM_017018398.2:c.1336G>C	XP_016873887.1:p.Ala446Pro
XM_017018399.1:c.796G>C	XP_016873888.1:p.Ala266Pro
NM_031471.6:c.1336G>C MANE Select	NP_113659.3:p.Ala446Pro
NM_001382361.1:c.1336G>C	NP_001369290.1:p.Ala446Pro
NM_001382362.1:c.1348G>C	NP_001369291.1:p.Ala450Pro
NM_001382363.1:c.796G>C	NP_001369292.1:p.Ala266Pro
NM_001382364.1:c.808G>C	NP_001369293.1:p.Ala270Pro
NM_001382448.1:c.1336G>C	NP_001369377.1:p.Ala446Pro
NM_178443.3:c.1348G>C	NP_848537.1:p.Ala450Pro