Canonical Allele Identifier: CA381087045

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63987730A>G (hg19) ; chr11:g.64220258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220258A>G , CM000673.2:g.64220258A>G	GRCh38
NC_000011.9:g.63987730A>G , CM000673.1:g.63987730A>G	GRCh37
NC_000011.8:g.63744306A>G	NCBI36
NG_016360.1:g.18579A>G , LRG_180:g.18579A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1255A>G	ENSP00000279227.5:p.Lys419Glu
ENST00000540554.2:n.2312A>G
ENST00000541252.2:c.703A>G	ENSP00000438885.2:p.Lys235Glu
ENST00000541326.6:n.555A>G
ENST00000544997.6:c.1243A>G	ENSP00000445778.2:p.Lys415Glu
ENST00000546255.2:n.1438A>G
ENST00000698845.1:c.*438A>G	ENSP00000513981.1:n.*438A>G
ENST00000698846.1:n.1380A>G
ENST00000698847.1:c.*648A>G	ENSP00000513982.1:n.*648A>G
ENST00000698848.1:n.432A>G
ENST00000698849.1:n.363A>G
ENST00000698850.1:n.902A>G
ENST00000698852.1:c.1243A>G	ENSP00000513984.1:p.Lys415Glu
ENST00000698853.1:c.*472A>G	ENSP00000513985.1:n.*472A>G
ENST00000698854.1:c.*573A>G	ENSP00000513986.1:n.*573A>G
ENST00000698855.1:n.2895A>G
ENST00000698856.1:n.2480A>G
ENST00000698859.1:n.1407A>G
ENST00000698860.1:c.1255A>G	ENSP00000513988.1:p.Lys419Glu
ENST00000698861.1:c.1243A>G	ENSP00000513989.1:p.Lys415Glu
ENST00000698862.1:c.*539A>G	ENSP00000513990.1:n.*539A>G
ENST00000698863.1:c.1243A>G	ENSP00000513991.1:p.Lys415Glu
ENST00000698864.1:n.1349A>G
ENST00000698865.1:c.1264A>G	ENSP00000513992.1:p.Lys422Glu
ENST00000698866.1:c.*648A>G	ENSP00000513993.1:n.*648A>G
ENST00000698867.1:n.5218A>G
ENST00000698868.1:c.1108A>G	ENSP00000513994.1:p.Lys370Glu
ENST00000698869.1:c.1243A>G	ENSP00000513995.1:p.Lys415Glu
ENST00000698870.1:c.1243A>G	ENSP00000513996.1:p.Lys415Glu
ENST00000698871.1:n.1766A>G
ENST00000698872.1:c.*32A>G	ENSP00000513997.1:n.*32A>G
ENST00000698873.1:c.*438A>G	ENSP00000513998.1:n.*438A>G
ENST00000698874.1:c.703A>G	ENSP00000513999.1:p.Lys235Glu
ENST00000698875.1:n.1103A>G
ENST00000698876.1:n.1182A>G
ENST00000698877.1:n.811A>G
ENST00000698878.1:c.1243A>G	ENSP00000514000.1:p.Lys415Glu
ENST00000698880.1:c.1083A>G
ENST00000345728.10:c.1243A>G MANE Select	ENSP00000339950.5:p.Lys415Glu
ENST00000279227.9:c.1255A>G	ENSP00000279227.5:p.Lys419Glu
ENST00000345728.9:c.1243A>G	ENSP00000339950.5:p.Lys415Glu
ENST00000540957.1:n.396A>G
ENST00000541326.5:n.550A>G
NM_031471.5:c.1243A>G	NP_113659.3:p.Lys415Glu
NM_178443.2:c.1255A>G , LRG_180t1:c.1255A>G	NP_848537.1:p.Lys419Glu
XM_011545294.1:c.1255A>G	XP_011543596.1:p.Lys419Glu
XM_011545295.1:c.715A>G	XP_011543597.1:p.Lys239Glu
XM_011545296.1:c.715A>G	XP_011543598.1:p.Lys239Glu
XM_011545294.3:c.1255A>G	XP_011543596.1:p.Lys419Glu
XM_011545295.2:c.715A>G	XP_011543597.1:p.Lys239Glu
XM_017018398.2:c.1243A>G	XP_016873887.1:p.Lys415Glu
XM_017018399.1:c.703A>G	XP_016873888.1:p.Lys235Glu
NM_031471.6:c.1243A>G MANE Select	NP_113659.3:p.Lys415Glu
NM_001382361.1:c.1243A>G	NP_001369290.1:p.Lys415Glu
NM_001382362.1:c.1255A>G	NP_001369291.1:p.Lys419Glu
NM_001382363.1:c.703A>G	NP_001369292.1:p.Lys235Glu
NM_001382364.1:c.715A>G	NP_001369293.1:p.Lys239Glu
NM_001382448.1:c.1243A>G	NP_001369377.1:p.Lys415Glu
NM_178443.3:c.1255A>G	NP_848537.1:p.Lys419Glu