Canonical Allele Identifier: CA599800807

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 2899026
• ClinVar RCV Id: RCV003606809
• dbSNP Id: rs1203473163
• gnomAD v2: 11-63990501-C-G
• gnomAD v3: 11-64223029-C-G
• gnomAD v4: 11-64223029-C-G
• MyVariant Identifiers: chr11:g.63990501C>G (hg19) ; chr11:g.64223029C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223029C>G , CM000673.2:g.64223029C>G	GRCh38
NC_000011.9:g.63990501C>G , CM000673.1:g.63990501C>G	GRCh37
NC_000011.8:g.63747077C>G	NCBI36
NG_016360.1:g.21350C>G , LRG_180:g.21350C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1683-19C>G	ENSP00000279227.5:n.1683-19C>G
ENST00000540554.2:n.3195-19C>G
ENST00000541252.2:c.1131-19C>G	ENSP00000438885.2:n.1131-19C>G
ENST00000544997.6:c.1671-19C>G	ENSP00000445778.2:n.1671-19C>G
ENST00000545896.2:c.235-19C>G	ENSP00000440209.2:n.235-19C>G
ENST00000546255.2:n.1975-19C>G
ENST00000698845.1:c.*866-19C>G	ENSP00000513981.1:n.*866-19C>G
ENST00000698846.1:n.1917-19C>G
ENST00000698847.1:c.*1076-19C>G	ENSP00000513982.1:n.*1076-19C>G
ENST00000698850.1:n.3673C>G
ENST00000698852.1:c.1671-19C>G	ENSP00000513984.1:n.1671-19C>G
ENST00000698853.1:c.*900-19C>G	ENSP00000513985.1:n.*900-19C>G
ENST00000698854.1:c.*1001-19C>G	ENSP00000513986.1:n.*1001-19C>G
ENST00000698855.1:n.3323-19C>G
ENST00000698856.1:n.3017-19C>G
ENST00000698859.1:n.2181-19C>G
ENST00000698860.1:c.1683-19C>G	ENSP00000513988.1:n.1683-19C>G
ENST00000698861.1:c.1671-19C>G	ENSP00000513989.1:n.1671-19C>G
ENST00000698862.1:c.*967-19C>G	ENSP00000513990.1:n.*967-19C>G
ENST00000698863.1:c.1671-19C>G	ENSP00000513991.1:n.1671-19C>G
ENST00000698864.1:n.2232-19C>G
ENST00000698865.1:c.1692-19C>G	ENSP00000513992.1:n.1692-19C>G
ENST00000698866.1:c.*1459-19C>G	ENSP00000513993.1:n.*1459-19C>G
ENST00000698867.1:n.5646-19C>G
ENST00000698868.1:c.1536-19C>G	ENSP00000513994.1:n.1536-19C>G
ENST00000698869.1:c.1437-19C>G	ENSP00000513995.1:n.1437-19C>G
ENST00000698870.1:c.1671-19C>G	ENSP00000513996.1:n.1671-19C>G
ENST00000698871.1:n.2194-19C>G
ENST00000698872.1:c.*460-19C>G	ENSP00000513997.1:n.*460-19C>G
ENST00000698873.1:c.*866-19C>G	ENSP00000513998.1:n.*866-19C>G
ENST00000698874.1:c.1131-19C>G	ENSP00000513999.1:n.1131-19C>G
ENST00000698875.1:n.1531-19C>G
ENST00000698876.1:n.1719-19C>G
ENST00000698877.1:n.1239-19C>G
ENST00000698878.1:c.1665-19C>G	ENSP00000514000.1:n.1665-19C>G
ENST00000698880.1:c.1539-19C>G
ENST00000345728.10:c.1671-19C>G MANE Select	ENSP00000339950.5:n.1671-19C>G
ENST00000279227.9:c.1683-19C>G	ENSP00000279227.5:n.1683-19C>G
ENST00000345728.9:c.1671-19C>G	ENSP00000339950.5:n.1671-19C>G
ENST00000540554.1:n.307-19C>G
ENST00000545896.1:c.234-19C>G	ENSP00000440209.1:n.234-19C>G
NM_031471.5:c.1671-19C>G	NP_113659.3:n.1671-19C>G
NM_178443.2:c.1683-19C>G , LRG_180t1:c.1683-19C>G	NP_848537.1:n.1683-19C>G
XM_011545294.1:c.1683-19C>G	XP_011543596.1:n.1683-19C>G
XM_011545295.1:c.1143-19C>G	XP_011543597.1:n.1143-19C>G
XM_011545296.1:c.1143-19C>G	XP_011543598.1:n.1143-19C>G
XM_011545294.3:c.1683-19C>G	XP_011543596.1:n.1683-19C>G
XM_011545295.2:c.1143-19C>G	XP_011543597.1:n.1143-19C>G
XM_017018398.2:c.1671-19C>G	XP_016873887.1:n.1671-19C>G
XM_017018399.1:c.1131-19C>G	XP_016873888.1:n.1131-19C>G
NM_031471.6:c.1671-19C>G MANE Select	NP_113659.3:n.1671-19C>G
NM_001382361.1:c.1671-19C>G	NP_001369290.1:n.1671-19C>G
NM_001382362.1:c.1683-19C>G	NP_001369291.1:n.1683-19C>G
NM_001382363.1:c.1131-19C>G	NP_001369292.1:n.1131-19C>G
NM_001382364.1:c.1143-19C>G	NP_001369293.1:n.1143-19C>G
NM_001382448.1:c.1671-19C>G	NP_001369377.1:n.1671-19C>G
NM_178443.3:c.1683-19C>G	NP_848537.1:n.1683-19C>G