Canonical Allele Identifier: CA381089786

Gene: FERMT3

Linked Data

• dbSNP Id: rs1184632125
• gnomAD v2: 11-63990588-C-T
• gnomAD v4: 11-64223116-C-T
• MyVariant Identifiers: chr11:g.63990588C>T (hg19) ; chr11:g.64223116C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223116C>T , CM000673.2:g.64223116C>T	GRCh38
NC_000011.9:g.63990588C>T , CM000673.1:g.63990588C>T	GRCh37
NC_000011.8:g.63747164C>T	NCBI36
NG_016360.1:g.21437C>T , LRG_180:g.21437C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1751C>T	ENSP00000279227.5:p.Ala584Val
ENST00000540554.2:n.3263C>T
ENST00000541252.2:c.1199C>T	ENSP00000438885.2:p.Ala400Val
ENST00000544997.6:c.1739C>T	ENSP00000445778.2:p.Ala580Val
ENST00000545896.2:c.303C>T	ENSP00000440209.2:p.Gly101=
ENST00000546255.2:n.2043C>T
ENST00000698845.1:c.*934C>T	ENSP00000513981.1:n.*934C>T
ENST00000698846.1:n.1985C>T
ENST00000698847.1:c.*1144C>T	ENSP00000513982.1:n.*1144C>T
ENST00000698850.1:n.3760C>T
ENST00000698852.1:c.1739C>T	ENSP00000513984.1:p.Ala580Val
ENST00000698853.1:c.*968C>T	ENSP00000513985.1:n.*968C>T
ENST00000698854.1:c.*1069C>T	ENSP00000513986.1:n.*1069C>T
ENST00000698855.1:n.3391C>T
ENST00000698856.1:n.3085C>T
ENST00000698859.1:n.2249C>T
ENST00000698860.1:c.1751C>T	ENSP00000513988.1:p.Ala584Val
ENST00000698861.1:c.1739C>T	ENSP00000513989.1:p.Ala580Val
ENST00000698862.1:c.*1035C>T	ENSP00000513990.1:n.*1035C>T
ENST00000698863.1:c.1739C>T	ENSP00000513991.1:p.Ala580Val
ENST00000698864.1:n.2300C>T
ENST00000698865.1:c.1760C>T	ENSP00000513992.1:p.Ala587Val
ENST00000698866.1:c.*1527C>T	ENSP00000513993.1:n.*1527C>T
ENST00000698867.1:n.5714C>T
ENST00000698868.1:c.1604C>T	ENSP00000513994.1:p.Ala535Val
ENST00000698869.1:c.1505C>T	ENSP00000513995.1:p.Ala502Val
ENST00000698870.1:c.1739C>T	ENSP00000513996.1:p.Ala580Val
ENST00000698871.1:n.2262C>T
ENST00000698872.1:c.*528C>T	ENSP00000513997.1:n.*528C>T
ENST00000698873.1:c.*934C>T	ENSP00000513998.1:n.*934C>T
ENST00000698874.1:c.1199C>T	ENSP00000513999.1:p.Ala400Val
ENST00000698875.1:n.1599C>T
ENST00000698876.1:n.1787C>T
ENST00000698877.1:n.1307C>T
ENST00000698878.1:c.1733C>T	ENSP00000514000.1:p.Ala578Val
ENST00000698880.1:c.1607C>T
ENST00000345728.10:c.1739C>T MANE Select	ENSP00000339950.5:p.Ala580Val
ENST00000279227.9:c.1751C>T	ENSP00000279227.5:p.Ala584Val
ENST00000345728.9:c.1739C>T	ENSP00000339950.5:p.Ala580Val
ENST00000540554.1:n.375C>T
ENST00000545896.1:c.302C>T	ENSP00000440209.1:p.Ala101Val
NM_031471.5:c.1739C>T	NP_113659.3:p.Ala580Val
NM_178443.2:c.1751C>T , LRG_180t1:c.1751C>T	NP_848537.1:p.Ala584Val
XM_011545294.1:c.1751C>T	XP_011543596.1:p.Ala584Val
XM_011545295.1:c.1211C>T	XP_011543597.1:p.Ala404Val
XM_011545296.1:c.1211C>T	XP_011543598.1:p.Ala404Val
XM_011545294.3:c.1751C>T	XP_011543596.1:p.Ala584Val
XM_011545295.2:c.1211C>T	XP_011543597.1:p.Ala404Val
XM_017018398.2:c.1739C>T	XP_016873887.1:p.Ala580Val
XM_017018399.1:c.1199C>T	XP_016873888.1:p.Ala400Val
NM_031471.6:c.1739C>T MANE Select	NP_113659.3:p.Ala580Val
NM_001382361.1:c.1739C>T	NP_001369290.1:p.Ala580Val
NM_001382362.1:c.1751C>T	NP_001369291.1:p.Ala584Val
NM_001382363.1:c.1199C>T	NP_001369292.1:p.Ala400Val
NM_001382364.1:c.1211C>T	NP_001369293.1:p.Ala404Val
NM_001382448.1:c.1739C>T	NP_001369377.1:p.Ala580Val
NM_178443.3:c.1751C>T	NP_848537.1:p.Ala584Val