Canonical Allele Identifier: CA6069154

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 765301
• ClinVar RCV Id: RCV000943708
• dbSNP Id: rs751370857
• ExAC: 11:63988004 C / T
• gnomAD v2: 11-63988004-C-T
• gnomAD v4: 11-64220532-C-T
• MyVariant Identifiers: chr11:g.63988004C>T (hg19) ; chr11:g.64220532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220532C>T , CM000673.2:g.64220532C>T	GRCh38
NC_000011.9:g.63988004C>T , CM000673.1:g.63988004C>T	GRCh37
NC_000011.8:g.63744580C>T	NCBI36
NG_016360.1:g.18853C>T , LRG_180:g.18853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1420C>T	ENSP00000279227.5:p.Leu474=
ENST00000540554.2:n.2586C>T
ENST00000541252.2:c.868C>T	ENSP00000438885.2:p.Leu290=
ENST00000541326.6:n.829C>T
ENST00000544997.6:c.1408C>T	ENSP00000445778.2:p.Leu470=
ENST00000545896.2:c.97C>T	ENSP00000440209.2:p.Leu33=
ENST00000546255.2:n.1712C>T
ENST00000698845.1:c.*603C>T	ENSP00000513981.1:n.*603C>T
ENST00000698846.1:n.1654C>T
ENST00000698847.1:c.*813C>T	ENSP00000513982.1:n.*813C>T
ENST00000698849.1:n.528C>T
ENST00000698850.1:n.1176C>T
ENST00000698852.1:c.1408C>T	ENSP00000513984.1:p.Leu470=
ENST00000698853.1:c.*637C>T	ENSP00000513985.1:n.*637C>T
ENST00000698854.1:c.*738C>T	ENSP00000513986.1:n.*738C>T
ENST00000698855.1:n.3060C>T
ENST00000698856.1:n.2754C>T
ENST00000698859.1:n.1572C>T
ENST00000698860.1:c.1420C>T	ENSP00000513988.1:p.Leu474=
ENST00000698861.1:c.1408C>T	ENSP00000513989.1:p.Leu470=
ENST00000698862.1:c.*704C>T	ENSP00000513990.1:n.*704C>T
ENST00000698863.1:c.1408C>T	ENSP00000513991.1:p.Leu470=
ENST00000698864.1:n.1623C>T
ENST00000698865.1:c.1429C>T	ENSP00000513992.1:p.Leu477=
ENST00000698866.1:c.*922C>T	ENSP00000513993.1:n.*922C>T
ENST00000698867.1:n.5383C>T
ENST00000698868.1:c.1273C>T	ENSP00000513994.1:p.Leu425=
ENST00000698869.1:c.1311+206C>T	ENSP00000513995.1:n.1311+206C>T
ENST00000698870.1:c.1408C>T	ENSP00000513996.1:p.Leu470=
ENST00000698871.1:n.1931C>T
ENST00000698872.1:c.*197C>T	ENSP00000513997.1:n.*197C>T
ENST00000698873.1:c.*603C>T	ENSP00000513998.1:n.*603C>T
ENST00000698874.1:c.868C>T	ENSP00000513999.1:p.Leu290=
ENST00000698875.1:n.1268C>T
ENST00000698876.1:n.1456C>T
ENST00000698877.1:n.976C>T
ENST00000698878.1:c.1402C>T	ENSP00000514000.1:p.Leu468=
ENST00000698880.1:c.1276C>T
ENST00000345728.10:c.1408C>T MANE Select	ENSP00000339950.5:p.Leu470=
ENST00000279227.9:c.1420C>T	ENSP00000279227.5:p.Leu474=
ENST00000345728.9:c.1408C>T	ENSP00000339950.5:p.Leu470=
ENST00000541326.5:n.824C>T
ENST00000545896.1:c.96C>T	ENSP00000440209.1:p.Ser32=
NM_031471.5:c.1408C>T	NP_113659.3:p.Leu470=
NM_178443.2:c.1420C>T , LRG_180t1:c.1420C>T	NP_848537.1:p.Leu474=
XM_011545294.1:c.1420C>T	XP_011543596.1:p.Leu474=
XM_011545295.1:c.880C>T	XP_011543597.1:p.Leu294=
XM_011545296.1:c.880C>T	XP_011543598.1:p.Leu294=
XM_011545294.3:c.1420C>T	XP_011543596.1:p.Leu474=
XM_011545295.2:c.880C>T	XP_011543597.1:p.Leu294=
XM_017018398.2:c.1408C>T	XP_016873887.1:p.Leu470=
XM_017018399.1:c.868C>T	XP_016873888.1:p.Leu290=
NM_031471.6:c.1408C>T MANE Select	NP_113659.3:p.Leu470=
NM_001382361.1:c.1408C>T	NP_001369290.1:p.Leu470=
NM_001382362.1:c.1420C>T	NP_001369291.1:p.Leu474=
NM_001382363.1:c.868C>T	NP_001369292.1:p.Leu290=
NM_001382364.1:c.880C>T	NP_001369293.1:p.Leu294=
NM_001382448.1:c.1408C>T	NP_001369377.1:p.Leu470=
NM_178443.3:c.1420C>T	NP_848537.1:p.Leu474=