Canonical Allele Identifier: CA6069091

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 938839
• ClinVar RCV Id: RCV001208136 ; RCV002561670
• dbSNP Id: rs779562122
• ExAC: 11:63987718 G / A
• gnomAD v2: 11-63987718-G-A
• gnomAD v3: 11-64220246-G-A
• gnomAD v4: 11-64220246-G-A
• MyVariant Identifiers: chr11:g.63987718G>A (hg19) ; chr11:g.64220246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220246G>A , CM000673.2:g.64220246G>A	GRCh38
NC_000011.9:g.63987718G>A , CM000673.1:g.63987718G>A	GRCh37
NC_000011.8:g.63744294G>A	NCBI36
NG_016360.1:g.18567G>A , LRG_180:g.18567G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1243G>A	ENSP00000279227.5:p.Val415Ile
ENST00000540554.2:n.2300G>A
ENST00000541252.2:c.691G>A	ENSP00000438885.2:p.Val231Ile
ENST00000541326.6:n.543G>A
ENST00000544997.6:c.1231G>A	ENSP00000445778.2:p.Val411Ile
ENST00000546255.2:n.1426G>A
ENST00000698845.1:c.*426G>A	ENSP00000513981.1:n.*426G>A
ENST00000698846.1:n.1368G>A
ENST00000698847.1:c.*636G>A	ENSP00000513982.1:n.*636G>A
ENST00000698848.1:n.420G>A
ENST00000698849.1:n.351G>A
ENST00000698850.1:n.890G>A
ENST00000698852.1:c.1231G>A	ENSP00000513984.1:p.Val411Ile
ENST00000698853.1:c.*460G>A	ENSP00000513985.1:n.*460G>A
ENST00000698854.1:c.*561G>A	ENSP00000513986.1:n.*561G>A
ENST00000698855.1:n.2883G>A
ENST00000698856.1:n.2468G>A
ENST00000698859.1:n.1395G>A
ENST00000698860.1:c.1243G>A	ENSP00000513988.1:p.Val415Ile
ENST00000698861.1:c.1231G>A	ENSP00000513989.1:p.Val411Ile
ENST00000698862.1:c.*527G>A	ENSP00000513990.1:n.*527G>A
ENST00000698863.1:c.1231G>A	ENSP00000513991.1:p.Val411Ile
ENST00000698864.1:n.1337G>A
ENST00000698865.1:c.1252G>A	ENSP00000513992.1:p.Val418Ile
ENST00000698866.1:c.*636G>A	ENSP00000513993.1:n.*636G>A
ENST00000698867.1:n.5206G>A
ENST00000698868.1:c.1096G>A	ENSP00000513994.1:p.Val366Ile
ENST00000698869.1:c.1231G>A	ENSP00000513995.1:p.Val411Ile
ENST00000698870.1:c.1231G>A	ENSP00000513996.1:p.Val411Ile
ENST00000698871.1:n.1754G>A
ENST00000698872.1:c.*20G>A	ENSP00000513997.1:n.*20G>A
ENST00000698873.1:c.*426G>A	ENSP00000513998.1:n.*426G>A
ENST00000698874.1:c.691G>A	ENSP00000513999.1:p.Val231Ile
ENST00000698875.1:n.1091G>A
ENST00000698876.1:n.1170G>A
ENST00000698877.1:n.799G>A
ENST00000698878.1:c.1231G>A	ENSP00000514000.1:p.Val411Ile
ENST00000698880.1:c.1071G>A
ENST00000345728.10:c.1231G>A MANE Select	ENSP00000339950.5:p.Val411Ile
ENST00000279227.9:c.1243G>A	ENSP00000279227.5:p.Val415Ile
ENST00000345728.9:c.1231G>A	ENSP00000339950.5:p.Val411Ile
ENST00000540957.1:n.384G>A
ENST00000541326.5:n.538G>A
NM_031471.5:c.1231G>A	NP_113659.3:p.Val411Ile
NM_178443.2:c.1243G>A , LRG_180t1:c.1243G>A	NP_848537.1:p.Val415Ile
XM_011545294.1:c.1243G>A	XP_011543596.1:p.Val415Ile
XM_011545295.1:c.703G>A	XP_011543597.1:p.Val235Ile
XM_011545296.1:c.703G>A	XP_011543598.1:p.Val235Ile
XM_011545294.3:c.1243G>A	XP_011543596.1:p.Val415Ile
XM_011545295.2:c.703G>A	XP_011543597.1:p.Val235Ile
XM_017018398.2:c.1231G>A	XP_016873887.1:p.Val411Ile
XM_017018399.1:c.691G>A	XP_016873888.1:p.Val231Ile
NM_031471.6:c.1231G>A MANE Select	NP_113659.3:p.Val411Ile
NM_001382361.1:c.1231G>A	NP_001369290.1:p.Val411Ile
NM_001382362.1:c.1243G>A	NP_001369291.1:p.Val415Ile
NM_001382363.1:c.691G>A	NP_001369292.1:p.Val231Ile
NM_001382364.1:c.703G>A	NP_001369293.1:p.Val235Ile
NM_001382448.1:c.1231G>A	NP_001369377.1:p.Val411Ile
NM_178443.3:c.1243G>A	NP_848537.1:p.Val415Ile