Canonical Allele Identifier: CA381088509

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220657-C-A
• MyVariant Identifiers: chr11:g.63988129C>A (hg19) ; chr11:g.64220657C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220657C>A , CM000673.2:g.64220657C>A	GRCh38
NC_000011.9:g.63988129C>A , CM000673.1:g.63988129C>A	GRCh37
NC_000011.8:g.63744705C>A	NCBI36
NG_016360.1:g.18978C>A , LRG_180:g.18978C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1545C>A	ENSP00000279227.5:p.Phe515Leu
ENST00000540554.2:n.2711C>A
ENST00000541252.2:c.993C>A	ENSP00000438885.2:p.Phe331Leu
ENST00000541326.6:n.954C>A
ENST00000544997.6:c.1533C>A	ENSP00000445778.2:p.Phe511Leu
ENST00000545896.2:c.222C>A	ENSP00000440209.2:p.Phe74Leu
ENST00000546255.2:n.1837C>A
ENST00000698845.1:c.*728C>A	ENSP00000513981.1:n.*728C>A
ENST00000698846.1:n.1779C>A
ENST00000698847.1:c.*938C>A	ENSP00000513982.1:n.*938C>A
ENST00000698849.1:n.653C>A
ENST00000698850.1:n.1301C>A
ENST00000698852.1:c.1533C>A	ENSP00000513984.1:p.Phe511Leu
ENST00000698853.1:c.*762C>A	ENSP00000513985.1:n.*762C>A
ENST00000698854.1:c.*863C>A	ENSP00000513986.1:n.*863C>A
ENST00000698855.1:n.3185C>A
ENST00000698856.1:n.2879C>A
ENST00000698859.1:n.1697C>A
ENST00000698860.1:c.1545C>A	ENSP00000513988.1:p.Phe515Leu
ENST00000698861.1:c.1533C>A	ENSP00000513989.1:p.Phe511Leu
ENST00000698862.1:c.*829C>A	ENSP00000513990.1:n.*829C>A
ENST00000698863.1:c.1533C>A	ENSP00000513991.1:p.Phe511Leu
ENST00000698864.1:n.1748C>A
ENST00000698865.1:c.1554C>A	ENSP00000513992.1:p.Phe518Leu
ENST00000698866.1:c.*1047C>A	ENSP00000513993.1:n.*1047C>A
ENST00000698867.1:n.5508C>A
ENST00000698868.1:c.1398C>A	ENSP00000513994.1:p.Phe466Leu
ENST00000698869.1:c.1311+331C>A	ENSP00000513995.1:n.1311+331C>A
ENST00000698870.1:c.1533C>A	ENSP00000513996.1:p.Phe511Leu
ENST00000698871.1:n.2056C>A
ENST00000698872.1:c.*322C>A	ENSP00000513997.1:n.*322C>A
ENST00000698873.1:c.*728C>A	ENSP00000513998.1:n.*728C>A
ENST00000698874.1:c.993C>A	ENSP00000513999.1:p.Phe331Leu
ENST00000698875.1:n.1393C>A
ENST00000698876.1:n.1581C>A
ENST00000698877.1:n.1101C>A
ENST00000698878.1:c.1527C>A	ENSP00000514000.1:p.Phe509Leu
ENST00000698880.1:c.1401C>A
ENST00000345728.10:c.1533C>A MANE Select	ENSP00000339950.5:p.Phe511Leu
ENST00000279227.9:c.1545C>A	ENSP00000279227.5:p.Phe515Leu
ENST00000345728.9:c.1533C>A	ENSP00000339950.5:p.Phe511Leu
ENST00000545896.1:c.221C>A	ENSP00000440209.1:p.Ser74Ter
NM_031471.5:c.1533C>A	NP_113659.3:p.Phe511Leu
NM_178443.2:c.1545C>A , LRG_180t1:c.1545C>A	NP_848537.1:p.Phe515Leu
XM_011545294.1:c.1545C>A	XP_011543596.1:p.Phe515Leu
XM_011545295.1:c.1005C>A	XP_011543597.1:p.Phe335Leu
XM_011545296.1:c.1005C>A	XP_011543598.1:p.Phe335Leu
XM_011545294.3:c.1545C>A	XP_011543596.1:p.Phe515Leu
XM_011545295.2:c.1005C>A	XP_011543597.1:p.Phe335Leu
XM_017018398.2:c.1533C>A	XP_016873887.1:p.Phe511Leu
XM_017018399.1:c.993C>A	XP_016873888.1:p.Phe331Leu
NM_031471.6:c.1533C>A MANE Select	NP_113659.3:p.Phe511Leu
NM_001382361.1:c.1533C>A	NP_001369290.1:p.Phe511Leu
NM_001382362.1:c.1545C>A	NP_001369291.1:p.Phe515Leu
NM_001382363.1:c.993C>A	NP_001369292.1:p.Phe331Leu
NM_001382364.1:c.1005C>A	NP_001369293.1:p.Phe335Leu
NM_001382448.1:c.1533C>A	NP_001369377.1:p.Phe511Leu
NM_178443.3:c.1545C>A	NP_848537.1:p.Phe515Leu