Canonical Allele Identifier: CA6068606

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 1912006
• ClinVar RCV Id: RCV002597377
• dbSNP Id: rs753093402
• ExAC: 11:63974838 T / G
• gnomAD v2: 11-63974838-T-G
• gnomAD v3: 11-64207366-T-G
• gnomAD v4: 11-64207366-T-G
• MyVariant Identifiers: chr11:g.63974838T>G (hg19) ; chr11:g.64207366T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64207366T>G , CM000673.2:g.64207366T>G	GRCh38
NC_000011.9:g.63974838T>G , CM000673.1:g.63974838T>G	GRCh37
NC_000011.8:g.63731414T>G	NCBI36
NG_016360.1:g.5687T>G , LRG_180:g.5687T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.2T>G	ENSP00000279227.5:p.Met1Arg
ENST00000544997.6:c.2T>G	ENSP00000445778.2:p.Met1Arg
ENST00000546255.2:n.96T>G
ENST00000698845.1:c.2T>G	ENSP00000513981.1:p.Met1Arg
ENST00000698846.1:n.139T>G
ENST00000698847.1:c.2T>G	ENSP00000513982.1:p.Met1Arg
ENST00000698852.1:c.2T>G	ENSP00000513984.1:p.Met1Arg
ENST00000698853.1:c.2T>G	ENSP00000513985.1:p.Met1Arg
ENST00000698854.1:c.2T>G	ENSP00000513986.1:p.Met1Arg
ENST00000698859.1:n.166T>G
ENST00000698860.1:c.2T>G	ENSP00000513988.1:p.Met1Arg
ENST00000698861.1:c.2T>G	ENSP00000513989.1:p.Met1Arg
ENST00000698862.1:c.2T>G	ENSP00000513990.1:p.Met1Arg
ENST00000698863.1:c.2T>G	ENSP00000513991.1:p.Met1Arg
ENST00000698864.1:n.108T>G
ENST00000698865.1:c.2T>G	ENSP00000513992.1:p.Met1Arg
ENST00000698866.1:c.2T>G	ENSP00000513993.1:p.Met1Arg
ENST00000698867.1:n.625T>G
ENST00000698868.1:c.2T>G	ENSP00000513994.1:p.Met1Arg
ENST00000698869.1:c.2T>G	ENSP00000513995.1:p.Met1Arg
ENST00000698870.1:c.2T>G	ENSP00000513996.1:p.Met1Arg
ENST00000698871.1:n.259T>G
ENST00000698878.1:c.2T>G	ENSP00000514000.1:p.Met1Arg
ENST00000345728.10:c.2T>G MANE Select	ENSP00000339950.5:p.Met1Arg
ENST00000279227.9:c.2T>G	ENSP00000279227.5:p.Met1Arg
ENST00000345728.9:c.2T>G	ENSP00000339950.5:p.Met1Arg
ENST00000544997.5:c.2T>G	ENSP00000445778.1:p.Met1Arg
NM_031471.5:c.2T>G	NP_113659.3:p.Met1Arg
NM_178443.2:c.2T>G , LRG_180t1:c.2T>G	NP_848537.1:p.Met1Arg
XM_011545294.1:c.2T>G	XP_011543596.1:p.Met1Arg
XM_011545294.3:c.2T>G	XP_011543596.1:p.Met1Arg
XM_017018398.2:c.2T>G	XP_016873887.1:p.Met1Arg
NM_031471.6:c.2T>G MANE Select	NP_113659.3:p.Met1Arg
NM_001382361.1:c.2T>G	NP_001369290.1:p.Met1Arg
NM_001382362.1:c.2T>G	NP_001369291.1:p.Met1Arg
NM_001382448.1:c.2T>G	NP_001369377.1:p.Met1Arg
NM_178443.3:c.2T>G	NP_848537.1:p.Met1Arg