Canonical Allele Identifier: CA6069281

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 836250
• ClinVar RCV Id: RCV001037329
• dbSNP Id: rs751183978
• ExAC: 11:63990657 G / A
• gnomAD v2: 11-63990657-G-A
• gnomAD v3: 11-64223185-G-A
• gnomAD v4: 11-64223185-G-A
• MyVariant Identifiers: chr11:g.63990657G>A (hg19) ; chr11:g.64223185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223185G>A , CM000673.2:g.64223185G>A	GRCh38
NC_000011.9:g.63990657G>A , CM000673.1:g.63990657G>A	GRCh37
NC_000011.8:g.63747233G>A	NCBI36
NG_016360.1:g.21506G>A , LRG_180:g.21506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1820G>A	ENSP00000279227.5:p.Arg607Gln
ENST00000540554.2:n.3332G>A
ENST00000541252.2:c.1268G>A	ENSP00000438885.2:p.Arg423Gln
ENST00000544997.6:c.1808G>A	ENSP00000445778.2:p.Arg603Gln
ENST00000545896.2:c.372G>A	ENSP00000440209.2:p.Pro124=
ENST00000546255.2:n.2112G>A
ENST00000698845.1:c.*1003G>A	ENSP00000513981.1:n.*1003G>A
ENST00000698846.1:n.2054G>A
ENST00000698847.1:c.*1213G>A	ENSP00000513982.1:n.*1213G>A
ENST00000698850.1:n.3829G>A
ENST00000698852.1:c.1808G>A	ENSP00000513984.1:p.Arg603Gln
ENST00000698853.1:c.*1037G>A	ENSP00000513985.1:n.*1037G>A
ENST00000698854.1:c.*1138G>A	ENSP00000513986.1:n.*1138G>A
ENST00000698855.1:n.3460G>A
ENST00000698856.1:n.3154G>A
ENST00000698859.1:n.2318G>A
ENST00000698860.1:c.1820G>A	ENSP00000513988.1:p.Arg607Gln
ENST00000698861.1:c.1808G>A	ENSP00000513989.1:p.Arg603Gln
ENST00000698862.1:c.*1104G>A	ENSP00000513990.1:n.*1104G>A
ENST00000698863.1:c.1808G>A	ENSP00000513991.1:p.Arg603Gln
ENST00000698864.1:n.2369G>A
ENST00000698865.1:c.1829G>A	ENSP00000513992.1:p.Arg610Gln
ENST00000698866.1:c.*1596G>A	ENSP00000513993.1:n.*1596G>A
ENST00000698867.1:n.5783G>A
ENST00000698868.1:c.1673G>A	ENSP00000513994.1:p.Arg558Gln
ENST00000698869.1:c.1574G>A	ENSP00000513995.1:p.Arg525Gln
ENST00000698870.1:c.1808G>A	ENSP00000513996.1:p.Arg603Gln
ENST00000698871.1:n.2331G>A
ENST00000698872.1:c.*597G>A	ENSP00000513997.1:n.*597G>A
ENST00000698873.1:c.*1003G>A	ENSP00000513998.1:n.*1003G>A
ENST00000698874.1:c.1268G>A	ENSP00000513999.1:p.Arg423Gln
ENST00000698875.1:n.1668G>A
ENST00000698876.1:n.1856G>A
ENST00000698877.1:n.1376G>A
ENST00000698878.1:c.1802G>A	ENSP00000514000.1:p.Arg601Gln
ENST00000698880.1:c.1676G>A
ENST00000345728.10:c.1808G>A MANE Select	ENSP00000339950.5:p.Arg603Gln
ENST00000279227.9:c.1820G>A	ENSP00000279227.5:p.Arg607Gln
ENST00000345728.9:c.1808G>A	ENSP00000339950.5:p.Arg603Gln
ENST00000545896.1:c.371G>A	ENSP00000440209.1:p.Arg124Gln
NM_031471.5:c.1808G>A	NP_113659.3:p.Arg603Gln
NM_178443.2:c.1820G>A , LRG_180t1:c.1820G>A	NP_848537.1:p.Arg607Gln
XM_011545294.1:c.1820G>A	XP_011543596.1:p.Arg607Gln
XM_011545295.1:c.1280G>A	XP_011543597.1:p.Arg427Gln
XM_011545296.1:c.1280G>A	XP_011543598.1:p.Arg427Gln
XM_011545294.3:c.1820G>A	XP_011543596.1:p.Arg607Gln
XM_011545295.2:c.1280G>A	XP_011543597.1:p.Arg427Gln
XM_017018398.2:c.1808G>A	XP_016873887.1:p.Arg603Gln
XM_017018399.1:c.1268G>A	XP_016873888.1:p.Arg423Gln
NM_031471.6:c.1808G>A MANE Select	NP_113659.3:p.Arg603Gln
NM_001382361.1:c.1808G>A	NP_001369290.1:p.Arg603Gln
NM_001382362.1:c.1820G>A	NP_001369291.1:p.Arg607Gln
NM_001382363.1:c.1268G>A	NP_001369292.1:p.Arg423Gln
NM_001382364.1:c.1280G>A	NP_001369293.1:p.Arg427Gln
NM_001382448.1:c.1808G>A	NP_001369377.1:p.Arg603Gln
NM_178443.3:c.1820G>A	NP_848537.1:p.Arg607Gln