Canonical Allele Identifier: CA381089548

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63990543A>C (hg19) ; chr11:g.64223071A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223071A>C , CM000673.2:g.64223071A>C	GRCh38
NC_000011.9:g.63990543A>C , CM000673.1:g.63990543A>C	GRCh37
NC_000011.8:g.63747119A>C	NCBI36
NG_016360.1:g.21392A>C , LRG_180:g.21392A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1706A>C	ENSP00000279227.5:p.Glu569Ala
ENST00000540554.2:n.3218A>C
ENST00000541252.2:c.1154A>C	ENSP00000438885.2:p.Glu385Ala
ENST00000544997.6:c.1694A>C	ENSP00000445778.2:p.Glu565Ala
ENST00000545896.2:c.258A>C	ENSP00000440209.2:p.Arg86=
ENST00000546255.2:n.1998A>C
ENST00000698845.1:c.*889A>C	ENSP00000513981.1:n.*889A>C
ENST00000698846.1:n.1940A>C
ENST00000698847.1:c.*1099A>C	ENSP00000513982.1:n.*1099A>C
ENST00000698850.1:n.3715A>C
ENST00000698852.1:c.1694A>C	ENSP00000513984.1:p.Glu565Ala
ENST00000698853.1:c.*923A>C	ENSP00000513985.1:n.*923A>C
ENST00000698854.1:c.*1024A>C	ENSP00000513986.1:n.*1024A>C
ENST00000698855.1:n.3346A>C
ENST00000698856.1:n.3040A>C
ENST00000698859.1:n.2204A>C
ENST00000698860.1:c.1706A>C	ENSP00000513988.1:p.Glu569Ala
ENST00000698861.1:c.1694A>C	ENSP00000513989.1:p.Glu565Ala
ENST00000698862.1:c.*990A>C	ENSP00000513990.1:n.*990A>C
ENST00000698863.1:c.1694A>C	ENSP00000513991.1:p.Glu565Ala
ENST00000698864.1:n.2255A>C
ENST00000698865.1:c.1715A>C	ENSP00000513992.1:p.Glu572Ala
ENST00000698866.1:c.*1482A>C	ENSP00000513993.1:n.*1482A>C
ENST00000698867.1:n.5669A>C
ENST00000698868.1:c.1559A>C	ENSP00000513994.1:p.Glu520Ala
ENST00000698869.1:c.1460A>C	ENSP00000513995.1:p.Glu487Ala
ENST00000698870.1:c.1694A>C	ENSP00000513996.1:p.Glu565Ala
ENST00000698871.1:n.2217A>C
ENST00000698872.1:c.*483A>C	ENSP00000513997.1:n.*483A>C
ENST00000698873.1:c.*889A>C	ENSP00000513998.1:n.*889A>C
ENST00000698874.1:c.1154A>C	ENSP00000513999.1:p.Glu385Ala
ENST00000698875.1:n.1554A>C
ENST00000698876.1:n.1742A>C
ENST00000698877.1:n.1262A>C
ENST00000698878.1:c.1688A>C	ENSP00000514000.1:p.Glu563Ala
ENST00000698880.1:c.1562A>C
ENST00000345728.10:c.1694A>C MANE Select	ENSP00000339950.5:p.Glu565Ala
ENST00000279227.9:c.1706A>C	ENSP00000279227.5:p.Glu569Ala
ENST00000345728.9:c.1694A>C	ENSP00000339950.5:p.Glu565Ala
ENST00000540554.1:n.330A>C
ENST00000545896.1:c.257A>C	ENSP00000440209.1:p.Glu86Ala
NM_031471.5:c.1694A>C	NP_113659.3:p.Glu565Ala
NM_178443.2:c.1706A>C , LRG_180t1:c.1706A>C	NP_848537.1:p.Glu569Ala
XM_011545294.1:c.1706A>C	XP_011543596.1:p.Glu569Ala
XM_011545295.1:c.1166A>C	XP_011543597.1:p.Glu389Ala
XM_011545296.1:c.1166A>C	XP_011543598.1:p.Glu389Ala
XM_011545294.3:c.1706A>C	XP_011543596.1:p.Glu569Ala
XM_011545295.2:c.1166A>C	XP_011543597.1:p.Glu389Ala
XM_017018398.2:c.1694A>C	XP_016873887.1:p.Glu565Ala
XM_017018399.1:c.1154A>C	XP_016873888.1:p.Glu385Ala
NM_031471.6:c.1694A>C MANE Select	NP_113659.3:p.Glu565Ala
NM_001382361.1:c.1694A>C	NP_001369290.1:p.Glu565Ala
NM_001382362.1:c.1706A>C	NP_001369291.1:p.Glu569Ala
NM_001382363.1:c.1154A>C	NP_001369292.1:p.Glu385Ala
NM_001382364.1:c.1166A>C	NP_001369293.1:p.Glu389Ala
NM_001382448.1:c.1694A>C	NP_001369377.1:p.Glu565Ala
NM_178443.3:c.1706A>C	NP_848537.1:p.Glu569Ala