Canonical Allele Identifier: CA2614111195

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220731-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220731G>C , CM000673.2:g.64220731G>C	GRCh38
NC_000011.9:g.63988203G>C , CM000673.1:g.63988203G>C	GRCh37
NC_000011.8:g.63744779G>C	NCBI36
NG_016360.1:g.19052G>C , LRG_180:g.19052G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1557+62G>C	ENSP00000279227.5:n.1557+62G>C
ENST00000540554.2:n.2785G>C
ENST00000541252.2:c.1005+62G>C	ENSP00000438885.2:n.1005+62G>C
ENST00000544997.6:c.1545+62G>C	ENSP00000445778.2:n.1545+62G>C
ENST00000545896.2:c.234+62G>C	ENSP00000440209.2:n.234+62G>C
ENST00000546255.2:n.1849+62G>C
ENST00000698845.1:c.*740+62G>C	ENSP00000513981.1:n.*740+62G>C
ENST00000698846.1:n.1791+62G>C
ENST00000698847.1:c.*950+62G>C	ENSP00000513982.1:n.*950+62G>C
ENST00000698850.1:n.1375G>C
ENST00000698852.1:c.1545+62G>C	ENSP00000513984.1:n.1545+62G>C
ENST00000698853.1:c.*774+62G>C	ENSP00000513985.1:n.*774+62G>C
ENST00000698854.1:c.*875+62G>C	ENSP00000513986.1:n.*875+62G>C
ENST00000698855.1:n.3197+62G>C
ENST00000698856.1:n.2891+62G>C
ENST00000698859.1:n.1771G>C
ENST00000698860.1:c.1557+62G>C	ENSP00000513988.1:n.1557+62G>C
ENST00000698861.1:c.1545+62G>C	ENSP00000513989.1:n.1545+62G>C
ENST00000698862.1:c.*841+62G>C	ENSP00000513990.1:n.*841+62G>C
ENST00000698863.1:c.1545+62G>C	ENSP00000513991.1:n.1545+62G>C
ENST00000698864.1:n.1822G>C
ENST00000698865.1:c.1566+62G>C	ENSP00000513992.1:n.1566+62G>C
ENST00000698866.1:c.*1060-11G>C	ENSP00000513993.1:n.*1060-11G>C
ENST00000698867.1:n.5520+62G>C
ENST00000698868.1:c.1410+62G>C	ENSP00000513994.1:n.1410+62G>C
ENST00000698869.1:c.1312-285G>C	ENSP00000513995.1:n.1312-285G>C
ENST00000698870.1:c.1545+62G>C	ENSP00000513996.1:n.1545+62G>C
ENST00000698871.1:n.2068+62G>C
ENST00000698872.1:c.*334+62G>C	ENSP00000513997.1:n.*334+62G>C
ENST00000698873.1:c.*740+62G>C	ENSP00000513998.1:n.*740+62G>C
ENST00000698874.1:c.1005+62G>C	ENSP00000513999.1:n.1005+62G>C
ENST00000698875.1:n.1405+62G>C
ENST00000698876.1:n.1593+62G>C
ENST00000698877.1:n.1113+62G>C
ENST00000698878.1:c.1539+62G>C	ENSP00000514000.1:n.1539+62G>C
ENST00000698880.1:c.1413+62G>C
ENST00000345728.10:c.1545+62G>C MANE Select	ENSP00000339950.5:n.1545+62G>C
ENST00000279227.9:c.1557+62G>C	ENSP00000279227.5:n.1557+62G>C
ENST00000345728.9:c.1545+62G>C	ENSP00000339950.5:n.1545+62G>C
ENST00000545896.1:c.233+62G>C	ENSP00000440209.1:n.233+62G>C
NM_031471.5:c.1545+62G>C	NP_113659.3:n.1545+62G>C
NM_178443.2:c.1557+62G>C , LRG_180t1:c.1557+62G>C	NP_848537.1:n.1557+62G>C
XM_011545294.1:c.1557+62G>C	XP_011543596.1:n.1557+62G>C
XM_011545295.1:c.1017+62G>C	XP_011543597.1:n.1017+62G>C
XM_011545296.1:c.1017+62G>C	XP_011543598.1:n.1017+62G>C
XM_011545294.3:c.1557+62G>C	XP_011543596.1:n.1557+62G>C
XM_011545295.2:c.1017+62G>C	XP_011543597.1:n.1017+62G>C
XM_017018398.2:c.1545+62G>C	XP_016873887.1:n.1545+62G>C
XM_017018399.1:c.1005+62G>C	XP_016873888.1:n.1005+62G>C
NM_031471.6:c.1545+62G>C MANE Select	NP_113659.3:n.1545+62G>C
NM_001382361.1:c.1545+62G>C	NP_001369290.1:n.1545+62G>C
NM_001382362.1:c.1557+62G>C	NP_001369291.1:n.1557+62G>C
NM_001382363.1:c.1005+62G>C	NP_001369292.1:n.1005+62G>C
NM_001382364.1:c.1017+62G>C	NP_001369293.1:n.1017+62G>C
NM_001382448.1:c.1545+62G>C	NP_001369377.1:n.1545+62G>C
NM_178443.3:c.1557+62G>C	NP_848537.1:n.1557+62G>C