Canonical Allele Identifier: CA381088183

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220611-G-C
• MyVariant Identifiers: chr11:g.63988083G>C (hg19) ; chr11:g.64220611G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220611G>C , CM000673.2:g.64220611G>C	GRCh38
NC_000011.9:g.63988083G>C , CM000673.1:g.63988083G>C	GRCh37
NC_000011.8:g.63744659G>C	NCBI36
NG_016360.1:g.18932G>C , LRG_180:g.18932G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1499G>C	ENSP00000279227.5:p.Gly500Ala
ENST00000540554.2:n.2665G>C
ENST00000541252.2:c.947G>C	ENSP00000438885.2:p.Gly316Ala
ENST00000541326.6:n.908G>C
ENST00000544997.6:c.1487G>C	ENSP00000445778.2:p.Gly496Ala
ENST00000545896.2:c.176G>C	ENSP00000440209.2:p.Gly59Ala
ENST00000546255.2:n.1791G>C
ENST00000698845.1:c.*682G>C	ENSP00000513981.1:n.*682G>C
ENST00000698846.1:n.1733G>C
ENST00000698847.1:c.*892G>C	ENSP00000513982.1:n.*892G>C
ENST00000698849.1:n.607G>C
ENST00000698850.1:n.1255G>C
ENST00000698852.1:c.1487G>C	ENSP00000513984.1:p.Gly496Ala
ENST00000698853.1:c.*716G>C	ENSP00000513985.1:n.*716G>C
ENST00000698854.1:c.*817G>C	ENSP00000513986.1:n.*817G>C
ENST00000698855.1:n.3139G>C
ENST00000698856.1:n.2833G>C
ENST00000698859.1:n.1651G>C
ENST00000698860.1:c.1499G>C	ENSP00000513988.1:p.Gly500Ala
ENST00000698861.1:c.1487G>C	ENSP00000513989.1:p.Gly496Ala
ENST00000698862.1:c.*783G>C	ENSP00000513990.1:n.*783G>C
ENST00000698863.1:c.1487G>C	ENSP00000513991.1:p.Gly496Ala
ENST00000698864.1:n.1702G>C
ENST00000698865.1:c.1508G>C	ENSP00000513992.1:p.Gly503Ala
ENST00000698866.1:c.*1001G>C	ENSP00000513993.1:n.*1001G>C
ENST00000698867.1:n.5462G>C
ENST00000698868.1:c.1352G>C	ENSP00000513994.1:p.Gly451Ala
ENST00000698869.1:c.1311+285G>C	ENSP00000513995.1:n.1311+285G>C
ENST00000698870.1:c.1487G>C	ENSP00000513996.1:p.Gly496Ala
ENST00000698871.1:n.2010G>C
ENST00000698872.1:c.*276G>C	ENSP00000513997.1:n.*276G>C
ENST00000698873.1:c.*682G>C	ENSP00000513998.1:n.*682G>C
ENST00000698874.1:c.947G>C	ENSP00000513999.1:p.Gly316Ala
ENST00000698875.1:n.1347G>C
ENST00000698876.1:n.1535G>C
ENST00000698877.1:n.1055G>C
ENST00000698878.1:c.1481G>C	ENSP00000514000.1:p.Gly494Ala
ENST00000698880.1:c.1355G>C
ENST00000345728.10:c.1487G>C MANE Select	ENSP00000339950.5:p.Gly496Ala
ENST00000279227.9:c.1499G>C	ENSP00000279227.5:p.Gly500Ala
ENST00000345728.9:c.1487G>C	ENSP00000339950.5:p.Gly496Ala
ENST00000545896.1:c.175G>C	ENSP00000440209.1:p.Ala59Pro
NM_031471.5:c.1487G>C	NP_113659.3:p.Gly496Ala
NM_178443.2:c.1499G>C , LRG_180t1:c.1499G>C	NP_848537.1:p.Gly500Ala
XM_011545294.1:c.1499G>C	XP_011543596.1:p.Gly500Ala
XM_011545295.1:c.959G>C	XP_011543597.1:p.Gly320Ala
XM_011545296.1:c.959G>C	XP_011543598.1:p.Gly320Ala
XM_011545294.3:c.1499G>C	XP_011543596.1:p.Gly500Ala
XM_011545295.2:c.959G>C	XP_011543597.1:p.Gly320Ala
XM_017018398.2:c.1487G>C	XP_016873887.1:p.Gly496Ala
XM_017018399.1:c.947G>C	XP_016873888.1:p.Gly316Ala
NM_031471.6:c.1487G>C MANE Select	NP_113659.3:p.Gly496Ala
NM_001382361.1:c.1487G>C	NP_001369290.1:p.Gly496Ala
NM_001382362.1:c.1499G>C	NP_001369291.1:p.Gly500Ala
NM_001382363.1:c.947G>C	NP_001369292.1:p.Gly316Ala
NM_001382364.1:c.959G>C	NP_001369293.1:p.Gly320Ala
NM_001382448.1:c.1487G>C	NP_001369377.1:p.Gly496Ala
NM_178443.3:c.1499G>C	NP_848537.1:p.Gly500Ala