Canonical Allele Identifier: CA381087961

Gene: FERMT3

Linked Data

• dbSNP Id: rs1591040322
• MyVariant Identifiers: chr11:g.63988053A>C (hg19) ; chr11:g.64220581A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220581A>C , CM000673.2:g.64220581A>C	GRCh38
NC_000011.9:g.63988053A>C , CM000673.1:g.63988053A>C	GRCh37
NC_000011.8:g.63744629A>C	NCBI36
NG_016360.1:g.18902A>C , LRG_180:g.18902A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1469A>C	ENSP00000279227.5:p.His490Pro
ENST00000540554.2:n.2635A>C
ENST00000541252.2:c.917A>C	ENSP00000438885.2:p.His306Pro
ENST00000541326.6:n.878A>C
ENST00000544997.6:c.1457A>C	ENSP00000445778.2:p.His486Pro
ENST00000545896.2:c.146A>C	ENSP00000440209.2:p.His49Pro
ENST00000546255.2:n.1761A>C
ENST00000698845.1:c.*652A>C	ENSP00000513981.1:n.*652A>C
ENST00000698846.1:n.1703A>C
ENST00000698847.1:c.*862A>C	ENSP00000513982.1:n.*862A>C
ENST00000698849.1:n.577A>C
ENST00000698850.1:n.1225A>C
ENST00000698852.1:c.1457A>C	ENSP00000513984.1:p.His486Pro
ENST00000698853.1:c.*686A>C	ENSP00000513985.1:n.*686A>C
ENST00000698854.1:c.*787A>C	ENSP00000513986.1:n.*787A>C
ENST00000698855.1:n.3109A>C
ENST00000698856.1:n.2803A>C
ENST00000698859.1:n.1621A>C
ENST00000698860.1:c.1469A>C	ENSP00000513988.1:p.His490Pro
ENST00000698861.1:c.1457A>C	ENSP00000513989.1:p.His486Pro
ENST00000698862.1:c.*753A>C	ENSP00000513990.1:n.*753A>C
ENST00000698863.1:c.1457A>C	ENSP00000513991.1:p.His486Pro
ENST00000698864.1:n.1672A>C
ENST00000698865.1:c.1478A>C	ENSP00000513992.1:p.His493Pro
ENST00000698866.1:c.*971A>C	ENSP00000513993.1:n.*971A>C
ENST00000698867.1:n.5432A>C
ENST00000698868.1:c.1322A>C	ENSP00000513994.1:p.His441Pro
ENST00000698869.1:c.1311+255A>C	ENSP00000513995.1:n.1311+255A>C
ENST00000698870.1:c.1457A>C	ENSP00000513996.1:p.His486Pro
ENST00000698871.1:n.1980A>C
ENST00000698872.1:c.*246A>C	ENSP00000513997.1:n.*246A>C
ENST00000698873.1:c.*652A>C	ENSP00000513998.1:n.*652A>C
ENST00000698874.1:c.917A>C	ENSP00000513999.1:p.His306Pro
ENST00000698875.1:n.1317A>C
ENST00000698876.1:n.1505A>C
ENST00000698877.1:n.1025A>C
ENST00000698878.1:c.1451A>C	ENSP00000514000.1:p.His484Pro
ENST00000698880.1:c.1325A>C
ENST00000345728.10:c.1457A>C MANE Select	ENSP00000339950.5:p.His486Pro
ENST00000279227.9:c.1469A>C	ENSP00000279227.5:p.His490Pro
ENST00000345728.9:c.1457A>C	ENSP00000339950.5:p.His486Pro
ENST00000541326.5:n.873A>C
ENST00000545896.1:c.145A>C	ENSP00000440209.1:p.Thr49Pro
NM_031471.5:c.1457A>C	NP_113659.3:p.His486Pro
NM_178443.2:c.1469A>C , LRG_180t1:c.1469A>C	NP_848537.1:p.His490Pro
XM_011545294.1:c.1469A>C	XP_011543596.1:p.His490Pro
XM_011545295.1:c.929A>C	XP_011543597.1:p.His310Pro
XM_011545296.1:c.929A>C	XP_011543598.1:p.His310Pro
XM_011545294.3:c.1469A>C	XP_011543596.1:p.His490Pro
XM_011545295.2:c.929A>C	XP_011543597.1:p.His310Pro
XM_017018398.2:c.1457A>C	XP_016873887.1:p.His486Pro
XM_017018399.1:c.917A>C	XP_016873888.1:p.His306Pro
NM_031471.6:c.1457A>C MANE Select	NP_113659.3:p.His486Pro
NM_001382361.1:c.1457A>C	NP_001369290.1:p.His486Pro
NM_001382362.1:c.1469A>C	NP_001369291.1:p.His490Pro
NM_001382363.1:c.917A>C	NP_001369292.1:p.His306Pro
NM_001382364.1:c.929A>C	NP_001369293.1:p.His310Pro
NM_001382448.1:c.1457A>C	NP_001369377.1:p.His486Pro
NM_178443.3:c.1469A>C	NP_848537.1:p.His490Pro