Canonical Allele Identifier: CA381086943

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63987697G>C (hg19) ; chr11:g.64220225G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220225G>C , CM000673.2:g.64220225G>C	GRCh38
NC_000011.9:g.63987697G>C , CM000673.1:g.63987697G>C	GRCh37
NC_000011.8:g.63744273G>C	NCBI36
NG_016360.1:g.18546G>C , LRG_180:g.18546G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1222G>C	ENSP00000279227.5:p.Glu408Gln
ENST00000540554.2:n.2279G>C
ENST00000541252.2:c.670G>C	ENSP00000438885.2:p.Glu224Gln
ENST00000541326.6:n.522G>C
ENST00000544997.6:c.1210G>C	ENSP00000445778.2:p.Glu404Gln
ENST00000546255.2:n.1405G>C
ENST00000698845.1:c.*405G>C	ENSP00000513981.1:n.*405G>C
ENST00000698846.1:n.1347G>C
ENST00000698847.1:c.*615G>C	ENSP00000513982.1:n.*615G>C
ENST00000698848.1:n.399G>C
ENST00000698849.1:n.330G>C
ENST00000698850.1:n.869G>C
ENST00000698852.1:c.1210G>C	ENSP00000513984.1:p.Glu404Gln
ENST00000698853.1:c.*439G>C	ENSP00000513985.1:n.*439G>C
ENST00000698854.1:c.*540G>C	ENSP00000513986.1:n.*540G>C
ENST00000698855.1:n.2862G>C
ENST00000698856.1:n.2447G>C
ENST00000698859.1:n.1374G>C
ENST00000698860.1:c.1222G>C	ENSP00000513988.1:p.Glu408Gln
ENST00000698861.1:c.1210G>C	ENSP00000513989.1:p.Glu404Gln
ENST00000698862.1:c.*506G>C	ENSP00000513990.1:n.*506G>C
ENST00000698863.1:c.1210G>C	ENSP00000513991.1:p.Glu404Gln
ENST00000698864.1:n.1316G>C
ENST00000698865.1:c.1231G>C	ENSP00000513992.1:p.Glu411Gln
ENST00000698866.1:c.*615G>C	ENSP00000513993.1:n.*615G>C
ENST00000698867.1:n.5185G>C
ENST00000698868.1:c.1075G>C	ENSP00000513994.1:p.Glu359Gln
ENST00000698869.1:c.1210G>C	ENSP00000513995.1:p.Glu404Gln
ENST00000698870.1:c.1210G>C	ENSP00000513996.1:p.Glu404Gln
ENST00000698871.1:n.1733G>C
ENST00000698872.1:c.665G>C	ENSP00000513997.1:p.Ter222Ser
ENST00000698873.1:c.*405G>C	ENSP00000513998.1:n.*405G>C
ENST00000698874.1:c.670G>C	ENSP00000513999.1:p.Glu224Gln
ENST00000698875.1:n.1070G>C
ENST00000698876.1:n.1149G>C
ENST00000698877.1:n.778G>C
ENST00000698878.1:c.1210G>C	ENSP00000514000.1:p.Glu404Gln
ENST00000698880.1:c.1050G>C
ENST00000345728.10:c.1210G>C MANE Select	ENSP00000339950.5:p.Glu404Gln
ENST00000279227.9:c.1222G>C	ENSP00000279227.5:p.Glu408Gln
ENST00000345728.9:c.1210G>C	ENSP00000339950.5:p.Glu404Gln
ENST00000540957.1:n.363G>C
ENST00000541326.5:n.517G>C
NM_031471.5:c.1210G>C	NP_113659.3:p.Glu404Gln
NM_178443.2:c.1222G>C , LRG_180t1:c.1222G>C	NP_848537.1:p.Glu408Gln
XM_011545294.1:c.1222G>C	XP_011543596.1:p.Glu408Gln
XM_011545295.1:c.682G>C	XP_011543597.1:p.Glu228Gln
XM_011545296.1:c.682G>C	XP_011543598.1:p.Glu228Gln
XM_011545294.3:c.1222G>C	XP_011543596.1:p.Glu408Gln
XM_011545295.2:c.682G>C	XP_011543597.1:p.Glu228Gln
XM_017018398.2:c.1210G>C	XP_016873887.1:p.Glu404Gln
XM_017018399.1:c.670G>C	XP_016873888.1:p.Glu224Gln
NM_031471.6:c.1210G>C MANE Select	NP_113659.3:p.Glu404Gln
NM_001382361.1:c.1210G>C	NP_001369290.1:p.Glu404Gln
NM_001382362.1:c.1222G>C	NP_001369291.1:p.Glu408Gln
NM_001382363.1:c.670G>C	NP_001369292.1:p.Glu224Gln
NM_001382364.1:c.682G>C	NP_001369293.1:p.Glu228Gln
NM_001382448.1:c.1210G>C	NP_001369377.1:p.Glu404Gln
NM_178443.3:c.1222G>C	NP_848537.1:p.Glu408Gln