Canonical Allele Identifier: CA381089701

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64223100-A-C
• MyVariant Identifiers: chr11:g.63990572A>C (hg19) ; chr11:g.64223100A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223100A>C , CM000673.2:g.64223100A>C	GRCh38
NC_000011.9:g.63990572A>C , CM000673.1:g.63990572A>C	GRCh37
NC_000011.8:g.63747148A>C	NCBI36
NG_016360.1:g.21421A>C , LRG_180:g.21421A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1735A>C	ENSP00000279227.5:p.Ile579Leu
ENST00000540554.2:n.3247A>C
ENST00000541252.2:c.1183A>C	ENSP00000438885.2:p.Ile395Leu
ENST00000544997.6:c.1723A>C	ENSP00000445778.2:p.Ile575Leu
ENST00000545896.2:c.287A>C	ENSP00000440209.2:p.Asp96Ala
ENST00000546255.2:n.2027A>C
ENST00000698845.1:c.*918A>C	ENSP00000513981.1:n.*918A>C
ENST00000698846.1:n.1969A>C
ENST00000698847.1:c.*1128A>C	ENSP00000513982.1:n.*1128A>C
ENST00000698850.1:n.3744A>C
ENST00000698852.1:c.1723A>C	ENSP00000513984.1:p.Ile575Leu
ENST00000698853.1:c.*952A>C	ENSP00000513985.1:n.*952A>C
ENST00000698854.1:c.*1053A>C	ENSP00000513986.1:n.*1053A>C
ENST00000698855.1:n.3375A>C
ENST00000698856.1:n.3069A>C
ENST00000698859.1:n.2233A>C
ENST00000698860.1:c.1735A>C	ENSP00000513988.1:p.Ile579Leu
ENST00000698861.1:c.1723A>C	ENSP00000513989.1:p.Ile575Leu
ENST00000698862.1:c.*1019A>C	ENSP00000513990.1:n.*1019A>C
ENST00000698863.1:c.1723A>C	ENSP00000513991.1:p.Ile575Leu
ENST00000698864.1:n.2284A>C
ENST00000698865.1:c.1744A>C	ENSP00000513992.1:p.Ile582Leu
ENST00000698866.1:c.*1511A>C	ENSP00000513993.1:n.*1511A>C
ENST00000698867.1:n.5698A>C
ENST00000698868.1:c.1588A>C	ENSP00000513994.1:p.Ile530Leu
ENST00000698869.1:c.1489A>C	ENSP00000513995.1:p.Ile497Leu
ENST00000698870.1:c.1723A>C	ENSP00000513996.1:p.Ile575Leu
ENST00000698871.1:n.2246A>C
ENST00000698872.1:c.*512A>C	ENSP00000513997.1:n.*512A>C
ENST00000698873.1:c.*918A>C	ENSP00000513998.1:n.*918A>C
ENST00000698874.1:c.1183A>C	ENSP00000513999.1:p.Ile395Leu
ENST00000698875.1:n.1583A>C
ENST00000698876.1:n.1771A>C
ENST00000698877.1:n.1291A>C
ENST00000698878.1:c.1717A>C	ENSP00000514000.1:p.Ile573Leu
ENST00000698880.1:c.1591A>C
ENST00000345728.10:c.1723A>C MANE Select	ENSP00000339950.5:p.Ile575Leu
ENST00000279227.9:c.1735A>C	ENSP00000279227.5:p.Ile579Leu
ENST00000345728.9:c.1723A>C	ENSP00000339950.5:p.Ile575Leu
ENST00000540554.1:n.359A>C
ENST00000545896.1:c.286A>C	ENSP00000440209.1:p.Ile96Leu
NM_031471.5:c.1723A>C	NP_113659.3:p.Ile575Leu
NM_178443.2:c.1735A>C , LRG_180t1:c.1735A>C	NP_848537.1:p.Ile579Leu
XM_011545294.1:c.1735A>C	XP_011543596.1:p.Ile579Leu
XM_011545295.1:c.1195A>C	XP_011543597.1:p.Ile399Leu
XM_011545296.1:c.1195A>C	XP_011543598.1:p.Ile399Leu
XM_011545294.3:c.1735A>C	XP_011543596.1:p.Ile579Leu
XM_011545295.2:c.1195A>C	XP_011543597.1:p.Ile399Leu
XM_017018398.2:c.1723A>C	XP_016873887.1:p.Ile575Leu
XM_017018399.1:c.1183A>C	XP_016873888.1:p.Ile395Leu
NM_031471.6:c.1723A>C MANE Select	NP_113659.3:p.Ile575Leu
NM_001382361.1:c.1723A>C	NP_001369290.1:p.Ile575Leu
NM_001382362.1:c.1735A>C	NP_001369291.1:p.Ile579Leu
NM_001382363.1:c.1183A>C	NP_001369292.1:p.Ile395Leu
NM_001382364.1:c.1195A>C	NP_001369293.1:p.Ile399Leu
NM_001382448.1:c.1723A>C	NP_001369377.1:p.Ile575Leu
NM_178443.3:c.1735A>C	NP_848537.1:p.Ile579Leu