Canonical Allele Identifier: CA381087940

Gene: FERMT3

Linked Data

• dbSNP Id: rs2134886017
• MyVariant Identifiers: chr11:g.63988049A>C (hg19) ; chr11:g.64220577A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220577A>C , CM000673.2:g.64220577A>C	GRCh38
NC_000011.9:g.63988049A>C , CM000673.1:g.63988049A>C	GRCh37
NC_000011.8:g.63744625A>C	NCBI36
NG_016360.1:g.18898A>C , LRG_180:g.18898A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1465A>C	ENSP00000279227.5:p.Asn489His
ENST00000540554.2:n.2631A>C
ENST00000541252.2:c.913A>C	ENSP00000438885.2:p.Asn305His
ENST00000541326.6:n.874A>C
ENST00000544997.6:c.1453A>C	ENSP00000445778.2:p.Asn485His
ENST00000545896.2:c.142A>C	ENSP00000440209.2:p.Asn48His
ENST00000546255.2:n.1757A>C
ENST00000698845.1:c.*648A>C	ENSP00000513981.1:n.*648A>C
ENST00000698846.1:n.1699A>C
ENST00000698847.1:c.*858A>C	ENSP00000513982.1:n.*858A>C
ENST00000698849.1:n.573A>C
ENST00000698850.1:n.1221A>C
ENST00000698852.1:c.1453A>C	ENSP00000513984.1:p.Asn485His
ENST00000698853.1:c.*682A>C	ENSP00000513985.1:n.*682A>C
ENST00000698854.1:c.*783A>C	ENSP00000513986.1:n.*783A>C
ENST00000698855.1:n.3105A>C
ENST00000698856.1:n.2799A>C
ENST00000698859.1:n.1617A>C
ENST00000698860.1:c.1465A>C	ENSP00000513988.1:p.Asn489His
ENST00000698861.1:c.1453A>C	ENSP00000513989.1:p.Asn485His
ENST00000698862.1:c.*749A>C	ENSP00000513990.1:n.*749A>C
ENST00000698863.1:c.1453A>C	ENSP00000513991.1:p.Asn485His
ENST00000698864.1:n.1668A>C
ENST00000698865.1:c.1474A>C	ENSP00000513992.1:p.Asn492His
ENST00000698866.1:c.*967A>C	ENSP00000513993.1:n.*967A>C
ENST00000698867.1:n.5428A>C
ENST00000698868.1:c.1318A>C	ENSP00000513994.1:p.Asn440His
ENST00000698869.1:c.1311+251A>C	ENSP00000513995.1:n.1311+251A>C
ENST00000698870.1:c.1453A>C	ENSP00000513996.1:p.Asn485His
ENST00000698871.1:n.1976A>C
ENST00000698872.1:c.*242A>C	ENSP00000513997.1:n.*242A>C
ENST00000698873.1:c.*648A>C	ENSP00000513998.1:n.*648A>C
ENST00000698874.1:c.913A>C	ENSP00000513999.1:p.Asn305His
ENST00000698875.1:n.1313A>C
ENST00000698876.1:n.1501A>C
ENST00000698877.1:n.1021A>C
ENST00000698878.1:c.1447A>C	ENSP00000514000.1:p.Asn483His
ENST00000698880.1:c.1321A>C
ENST00000345728.10:c.1453A>C MANE Select	ENSP00000339950.5:p.Asn485His
ENST00000279227.9:c.1465A>C	ENSP00000279227.5:p.Asn489His
ENST00000345728.9:c.1453A>C	ENSP00000339950.5:p.Asn485His
ENST00000541326.5:n.869A>C
ENST00000545896.1:c.141A>C	ENSP00000440209.1:p.Ala47=
NM_031471.5:c.1453A>C	NP_113659.3:p.Asn485His
NM_178443.2:c.1465A>C , LRG_180t1:c.1465A>C	NP_848537.1:p.Asn489His
XM_011545294.1:c.1465A>C	XP_011543596.1:p.Asn489His
XM_011545295.1:c.925A>C	XP_011543597.1:p.Asn309His
XM_011545296.1:c.925A>C	XP_011543598.1:p.Asn309His
XM_011545294.3:c.1465A>C	XP_011543596.1:p.Asn489His
XM_011545295.2:c.925A>C	XP_011543597.1:p.Asn309His
XM_017018398.2:c.1453A>C	XP_016873887.1:p.Asn485His
XM_017018399.1:c.913A>C	XP_016873888.1:p.Asn305His
NM_031471.6:c.1453A>C MANE Select	NP_113659.3:p.Asn485His
NM_001382361.1:c.1453A>C	NP_001369290.1:p.Asn485His
NM_001382362.1:c.1465A>C	NP_001369291.1:p.Asn489His
NM_001382363.1:c.913A>C	NP_001369292.1:p.Asn305His
NM_001382364.1:c.925A>C	NP_001369293.1:p.Asn309His
NM_001382448.1:c.1453A>C	NP_001369377.1:p.Asn485His
NM_178443.3:c.1465A>C	NP_848537.1:p.Asn489His