Canonical Allele Identifier: CA6069157

Gene: FERMT3

Linked Data

• dbSNP Id: rs527520562
• ExAC: 11:63988023 A / G
• gnomAD v2: 11-63988023-A-G
• gnomAD v3: 11-64220551-A-G
• gnomAD v4: 11-64220551-A-G
• MyVariant Identifiers: chr11:g.63988023A>G (hg19) ; chr11:g.64220551A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220551A>G , CM000673.2:g.64220551A>G	GRCh38
NC_000011.9:g.63988023A>G , CM000673.1:g.63988023A>G	GRCh37
NC_000011.8:g.63744599A>G	NCBI36
NG_016360.1:g.18872A>G , LRG_180:g.18872A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1439A>G	ENSP00000279227.5:p.Gln480Arg
ENST00000540554.2:n.2605A>G
ENST00000541252.2:c.887A>G	ENSP00000438885.2:p.Gln296Arg
ENST00000541326.6:n.848A>G
ENST00000544997.6:c.1427A>G	ENSP00000445778.2:p.Gln476Arg
ENST00000545896.2:c.116A>G	ENSP00000440209.2:p.Gln39Arg
ENST00000546255.2:n.1731A>G
ENST00000698845.1:c.*622A>G	ENSP00000513981.1:n.*622A>G
ENST00000698846.1:n.1673A>G
ENST00000698847.1:c.*832A>G	ENSP00000513982.1:n.*832A>G
ENST00000698849.1:n.547A>G
ENST00000698850.1:n.1195A>G
ENST00000698852.1:c.1427A>G	ENSP00000513984.1:p.Gln476Arg
ENST00000698853.1:c.*656A>G	ENSP00000513985.1:n.*656A>G
ENST00000698854.1:c.*757A>G	ENSP00000513986.1:n.*757A>G
ENST00000698855.1:n.3079A>G
ENST00000698856.1:n.2773A>G
ENST00000698859.1:n.1591A>G
ENST00000698860.1:c.1439A>G	ENSP00000513988.1:p.Gln480Arg
ENST00000698861.1:c.1427A>G	ENSP00000513989.1:p.Gln476Arg
ENST00000698862.1:c.*723A>G	ENSP00000513990.1:n.*723A>G
ENST00000698863.1:c.1427A>G	ENSP00000513991.1:p.Gln476Arg
ENST00000698864.1:n.1642A>G
ENST00000698865.1:c.1448A>G	ENSP00000513992.1:p.Gln483Arg
ENST00000698866.1:c.*941A>G	ENSP00000513993.1:n.*941A>G
ENST00000698867.1:n.5402A>G
ENST00000698868.1:c.1292A>G	ENSP00000513994.1:p.Gln431Arg
ENST00000698869.1:c.1311+225A>G	ENSP00000513995.1:n.1311+225A>G
ENST00000698870.1:c.1427A>G	ENSP00000513996.1:p.Gln476Arg
ENST00000698871.1:n.1950A>G
ENST00000698872.1:c.*216A>G	ENSP00000513997.1:n.*216A>G
ENST00000698873.1:c.*622A>G	ENSP00000513998.1:n.*622A>G
ENST00000698874.1:c.887A>G	ENSP00000513999.1:p.Gln296Arg
ENST00000698875.1:n.1287A>G
ENST00000698876.1:n.1475A>G
ENST00000698877.1:n.995A>G
ENST00000698878.1:c.1421A>G	ENSP00000514000.1:p.Gln474Arg
ENST00000698880.1:c.1295A>G
ENST00000345728.10:c.1427A>G MANE Select	ENSP00000339950.5:p.Gln476Arg
ENST00000279227.9:c.1439A>G	ENSP00000279227.5:p.Gln480Arg
ENST00000345728.9:c.1427A>G	ENSP00000339950.5:p.Gln476Arg
ENST00000541326.5:n.843A>G
ENST00000545896.1:c.115A>G	ENSP00000440209.1:p.Ser39Gly
NM_031471.5:c.1427A>G	NP_113659.3:p.Gln476Arg
NM_178443.2:c.1439A>G , LRG_180t1:c.1439A>G	NP_848537.1:p.Gln480Arg
XM_011545294.1:c.1439A>G	XP_011543596.1:p.Gln480Arg
XM_011545295.1:c.899A>G	XP_011543597.1:p.Gln300Arg
XM_011545296.1:c.899A>G	XP_011543598.1:p.Gln300Arg
XM_011545294.3:c.1439A>G	XP_011543596.1:p.Gln480Arg
XM_011545295.2:c.899A>G	XP_011543597.1:p.Gln300Arg
XM_017018398.2:c.1427A>G	XP_016873887.1:p.Gln476Arg
XM_017018399.1:c.887A>G	XP_016873888.1:p.Gln296Arg
NM_031471.6:c.1427A>G MANE Select	NP_113659.3:p.Gln476Arg
NM_001382361.1:c.1427A>G	NP_001369290.1:p.Gln476Arg
NM_001382362.1:c.1439A>G	NP_001369291.1:p.Gln480Arg
NM_001382363.1:c.887A>G	NP_001369292.1:p.Gln296Arg
NM_001382364.1:c.899A>G	NP_001369293.1:p.Gln300Arg
NM_001382448.1:c.1427A>G	NP_001369377.1:p.Gln476Arg
NM_178443.3:c.1439A>G	NP_848537.1:p.Gln480Arg