Canonical Allele Identifier: CA679213102

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 3012293
• ClinVar RCV Id: RCV003875420
• dbSNP Id: rs1479548772
• gnomAD v3: 11-64220423-C-T
• gnomAD v4: 11-64220423-C-T
• MyVariant Identifiers: chr11:g.63987895C>T (hg19) ; chr11:g.64220423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220423C>T , CM000673.2:g.64220423C>T	GRCh38
NC_000011.9:g.63987895C>T , CM000673.1:g.63987895C>T	GRCh37
NC_000011.8:g.63744471C>T	NCBI36
NG_016360.1:g.18744C>T , LRG_180:g.18744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1324-13C>T	ENSP00000279227.5:n.1324-13C>T
ENST00000540554.2:n.2477C>T
ENST00000541252.2:c.772-13C>T	ENSP00000438885.2:n.772-13C>T
ENST00000541326.6:n.720C>T
ENST00000544997.6:c.1312-13C>T	ENSP00000445778.2:n.1312-13C>T
ENST00000546255.2:n.1603C>T
ENST00000698845.1:c.*507-13C>T	ENSP00000513981.1:n.*507-13C>T
ENST00000698846.1:n.1545C>T
ENST00000698847.1:c.*717-13C>T	ENSP00000513982.1:n.*717-13C>T
ENST00000698848.1:n.597C>T
ENST00000698849.1:n.432-13C>T
ENST00000698850.1:n.1067C>T
ENST00000698852.1:c.1312-13C>T	ENSP00000513984.1:n.1312-13C>T
ENST00000698853.1:c.*541-13C>T	ENSP00000513985.1:n.*541-13C>T
ENST00000698854.1:c.*642-13C>T	ENSP00000513986.1:n.*642-13C>T
ENST00000698855.1:n.2964-13C>T
ENST00000698856.1:n.2645C>T
ENST00000698859.1:n.1476-13C>T
ENST00000698860.1:c.1324-13C>T	ENSP00000513988.1:n.1324-13C>T
ENST00000698861.1:c.1312-13C>T	ENSP00000513989.1:n.1312-13C>T
ENST00000698862.1:c.*608-13C>T	ENSP00000513990.1:n.*608-13C>T
ENST00000698863.1:c.1312-13C>T	ENSP00000513991.1:n.1312-13C>T
ENST00000698864.1:n.1514C>T
ENST00000698865.1:c.1333-13C>T	ENSP00000513992.1:n.1333-13C>T
ENST00000698866.1:c.*813C>T	ENSP00000513993.1:n.*813C>T
ENST00000698867.1:n.5287-13C>T
ENST00000698868.1:c.1177-13C>T	ENSP00000513994.1:n.1177-13C>T
ENST00000698869.1:c.1311+97C>T	ENSP00000513995.1:n.1311+97C>T
ENST00000698870.1:c.1312-13C>T	ENSP00000513996.1:n.1312-13C>T
ENST00000698871.1:n.1835-13C>T
ENST00000698872.1:c.*101-13C>T	ENSP00000513997.1:n.*101-13C>T
ENST00000698873.1:c.*507-13C>T	ENSP00000513998.1:n.*507-13C>T
ENST00000698874.1:c.772-13C>T	ENSP00000513999.1:n.772-13C>T
ENST00000698875.1:n.1172-13C>T
ENST00000698876.1:n.1347C>T
ENST00000698877.1:n.880-13C>T
ENST00000698878.1:c.1312-19C>T	ENSP00000514000.1:n.1312-19C>T
ENST00000698880.1:c.1167C>T
ENST00000345728.10:c.1312-13C>T MANE Select	ENSP00000339950.5:n.1312-13C>T
ENST00000279227.9:c.1324-13C>T	ENSP00000279227.5:n.1324-13C>T
ENST00000345728.9:c.1312-13C>T	ENSP00000339950.5:n.1312-13C>T
ENST00000540957.1:n.561C>T
ENST00000541326.5:n.715C>T
NM_031471.5:c.1312-13C>T	NP_113659.3:n.1312-13C>T
NM_178443.2:c.1324-13C>T , LRG_180t1:c.1324-13C>T	NP_848537.1:n.1324-13C>T
XM_011545294.1:c.1324-13C>T	XP_011543596.1:n.1324-13C>T
XM_011545295.1:c.784-13C>T	XP_011543597.1:n.784-13C>T
XM_011545296.1:c.784-13C>T	XP_011543598.1:n.784-13C>T
XM_011545294.3:c.1324-13C>T	XP_011543596.1:n.1324-13C>T
XM_011545295.2:c.784-13C>T	XP_011543597.1:n.784-13C>T
XM_017018398.2:c.1312-13C>T	XP_016873887.1:n.1312-13C>T
XM_017018399.1:c.772-13C>T	XP_016873888.1:n.772-13C>T
NM_031471.6:c.1312-13C>T MANE Select	NP_113659.3:n.1312-13C>T
NM_001382361.1:c.1312-13C>T	NP_001369290.1:n.1312-13C>T
NM_001382362.1:c.1324-13C>T	NP_001369291.1:n.1324-13C>T
NM_001382363.1:c.772-13C>T	NP_001369292.1:n.772-13C>T
NM_001382364.1:c.784-13C>T	NP_001369293.1:n.784-13C>T
NM_001382448.1:c.1312-13C>T	NP_001369377.1:n.1312-13C>T
NM_178443.3:c.1324-13C>T	NP_848537.1:n.1324-13C>T