Canonical Allele Identifier: CA2614111192

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220721-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220721C>T , CM000673.2:g.64220721C>T	GRCh38
NC_000011.9:g.63988193C>T , CM000673.1:g.63988193C>T	GRCh37
NC_000011.8:g.63744769C>T	NCBI36
NG_016360.1:g.19042C>T , LRG_180:g.19042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1557+52C>T	ENSP00000279227.5:n.1557+52C>T
ENST00000540554.2:n.2775C>T
ENST00000541252.2:c.1005+52C>T	ENSP00000438885.2:n.1005+52C>T
ENST00000544997.6:c.1545+52C>T	ENSP00000445778.2:n.1545+52C>T
ENST00000545896.2:c.234+52C>T	ENSP00000440209.2:n.234+52C>T
ENST00000546255.2:n.1849+52C>T
ENST00000698845.1:c.*740+52C>T	ENSP00000513981.1:n.*740+52C>T
ENST00000698846.1:n.1791+52C>T
ENST00000698847.1:c.*950+52C>T	ENSP00000513982.1:n.*950+52C>T
ENST00000698850.1:n.1365C>T
ENST00000698852.1:c.1545+52C>T	ENSP00000513984.1:n.1545+52C>T
ENST00000698853.1:c.*774+52C>T	ENSP00000513985.1:n.*774+52C>T
ENST00000698854.1:c.*875+52C>T	ENSP00000513986.1:n.*875+52C>T
ENST00000698855.1:n.3197+52C>T
ENST00000698856.1:n.2891+52C>T
ENST00000698859.1:n.1761C>T
ENST00000698860.1:c.1557+52C>T	ENSP00000513988.1:n.1557+52C>T
ENST00000698861.1:c.1545+52C>T	ENSP00000513989.1:n.1545+52C>T
ENST00000698862.1:c.*841+52C>T	ENSP00000513990.1:n.*841+52C>T
ENST00000698863.1:c.1545+52C>T	ENSP00000513991.1:n.1545+52C>T
ENST00000698864.1:n.1812C>T
ENST00000698865.1:c.1566+52C>T	ENSP00000513992.1:n.1566+52C>T
ENST00000698866.1:c.*1060-21C>T	ENSP00000513993.1:n.*1060-21C>T
ENST00000698867.1:n.5520+52C>T
ENST00000698868.1:c.1410+52C>T	ENSP00000513994.1:n.1410+52C>T
ENST00000698869.1:c.1312-295C>T	ENSP00000513995.1:n.1312-295C>T
ENST00000698870.1:c.1545+52C>T	ENSP00000513996.1:n.1545+52C>T
ENST00000698871.1:n.2068+52C>T
ENST00000698872.1:c.*334+52C>T	ENSP00000513997.1:n.*334+52C>T
ENST00000698873.1:c.*740+52C>T	ENSP00000513998.1:n.*740+52C>T
ENST00000698874.1:c.1005+52C>T	ENSP00000513999.1:n.1005+52C>T
ENST00000698875.1:n.1405+52C>T
ENST00000698876.1:n.1593+52C>T
ENST00000698877.1:n.1113+52C>T
ENST00000698878.1:c.1539+52C>T	ENSP00000514000.1:n.1539+52C>T
ENST00000698880.1:c.1413+52C>T
ENST00000345728.10:c.1545+52C>T MANE Select	ENSP00000339950.5:n.1545+52C>T
ENST00000279227.9:c.1557+52C>T	ENSP00000279227.5:n.1557+52C>T
ENST00000345728.9:c.1545+52C>T	ENSP00000339950.5:n.1545+52C>T
ENST00000545896.1:c.233+52C>T	ENSP00000440209.1:n.233+52C>T
NM_031471.5:c.1545+52C>T	NP_113659.3:n.1545+52C>T
NM_178443.2:c.1557+52C>T , LRG_180t1:c.1557+52C>T	NP_848537.1:n.1557+52C>T
XM_011545294.1:c.1557+52C>T	XP_011543596.1:n.1557+52C>T
XM_011545295.1:c.1017+52C>T	XP_011543597.1:n.1017+52C>T
XM_011545296.1:c.1017+52C>T	XP_011543598.1:n.1017+52C>T
XM_011545294.3:c.1557+52C>T	XP_011543596.1:n.1557+52C>T
XM_011545295.2:c.1017+52C>T	XP_011543597.1:n.1017+52C>T
XM_017018398.2:c.1545+52C>T	XP_016873887.1:n.1545+52C>T
XM_017018399.1:c.1005+52C>T	XP_016873888.1:n.1005+52C>T
NM_031471.6:c.1545+52C>T MANE Select	NP_113659.3:n.1545+52C>T
NM_001382361.1:c.1545+52C>T	NP_001369290.1:n.1545+52C>T
NM_001382362.1:c.1557+52C>T	NP_001369291.1:n.1557+52C>T
NM_001382363.1:c.1005+52C>T	NP_001369292.1:n.1005+52C>T
NM_001382364.1:c.1017+52C>T	NP_001369293.1:n.1017+52C>T
NM_001382448.1:c.1545+52C>T	NP_001369377.1:n.1545+52C>T
NM_178443.3:c.1557+52C>T	NP_848537.1:n.1557+52C>T