Canonical Allele Identifier: CA381088274

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220622-T-C
• MyVariant Identifiers: chr11:g.63988094T>C (hg19) ; chr11:g.64220622T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220622T>C , CM000673.2:g.64220622T>C	GRCh38
NC_000011.9:g.63988094T>C , CM000673.1:g.63988094T>C	GRCh37
NC_000011.8:g.63744670T>C	NCBI36
NG_016360.1:g.18943T>C , LRG_180:g.18943T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1510T>C	ENSP00000279227.5:p.Tyr504His
ENST00000540554.2:n.2676T>C
ENST00000541252.2:c.958T>C	ENSP00000438885.2:p.Tyr320His
ENST00000541326.6:n.919T>C
ENST00000544997.6:c.1498T>C	ENSP00000445778.2:p.Tyr500His
ENST00000545896.2:c.187T>C	ENSP00000440209.2:p.Tyr63His
ENST00000546255.2:n.1802T>C
ENST00000698845.1:c.*693T>C	ENSP00000513981.1:n.*693T>C
ENST00000698846.1:n.1744T>C
ENST00000698847.1:c.*903T>C	ENSP00000513982.1:n.*903T>C
ENST00000698849.1:n.618T>C
ENST00000698850.1:n.1266T>C
ENST00000698852.1:c.1498T>C	ENSP00000513984.1:p.Tyr500His
ENST00000698853.1:c.*727T>C	ENSP00000513985.1:n.*727T>C
ENST00000698854.1:c.*828T>C	ENSP00000513986.1:n.*828T>C
ENST00000698855.1:n.3150T>C
ENST00000698856.1:n.2844T>C
ENST00000698859.1:n.1662T>C
ENST00000698860.1:c.1510T>C	ENSP00000513988.1:p.Tyr504His
ENST00000698861.1:c.1498T>C	ENSP00000513989.1:p.Tyr500His
ENST00000698862.1:c.*794T>C	ENSP00000513990.1:n.*794T>C
ENST00000698863.1:c.1498T>C	ENSP00000513991.1:p.Tyr500His
ENST00000698864.1:n.1713T>C
ENST00000698865.1:c.1519T>C	ENSP00000513992.1:p.Tyr507His
ENST00000698866.1:c.*1012T>C	ENSP00000513993.1:n.*1012T>C
ENST00000698867.1:n.5473T>C
ENST00000698868.1:c.1363T>C	ENSP00000513994.1:p.Tyr455His
ENST00000698869.1:c.1311+296T>C	ENSP00000513995.1:n.1311+296T>C
ENST00000698870.1:c.1498T>C	ENSP00000513996.1:p.Tyr500His
ENST00000698871.1:n.2021T>C
ENST00000698872.1:c.*287T>C	ENSP00000513997.1:n.*287T>C
ENST00000698873.1:c.*693T>C	ENSP00000513998.1:n.*693T>C
ENST00000698874.1:c.958T>C	ENSP00000513999.1:p.Tyr320His
ENST00000698875.1:n.1358T>C
ENST00000698876.1:n.1546T>C
ENST00000698877.1:n.1066T>C
ENST00000698878.1:c.1492T>C	ENSP00000514000.1:p.Tyr498His
ENST00000698880.1:c.1366T>C
ENST00000345728.10:c.1498T>C MANE Select	ENSP00000339950.5:p.Tyr500His
ENST00000279227.9:c.1510T>C	ENSP00000279227.5:p.Tyr504His
ENST00000345728.9:c.1498T>C	ENSP00000339950.5:p.Tyr500His
ENST00000545896.1:c.186T>C	ENSP00000440209.1:p.Pro62=
NM_031471.5:c.1498T>C	NP_113659.3:p.Tyr500His
NM_178443.2:c.1510T>C , LRG_180t1:c.1510T>C	NP_848537.1:p.Tyr504His
XM_011545294.1:c.1510T>C	XP_011543596.1:p.Tyr504His
XM_011545295.1:c.970T>C	XP_011543597.1:p.Tyr324His
XM_011545296.1:c.970T>C	XP_011543598.1:p.Tyr324His
XM_011545294.3:c.1510T>C	XP_011543596.1:p.Tyr504His
XM_011545295.2:c.970T>C	XP_011543597.1:p.Tyr324His
XM_017018398.2:c.1498T>C	XP_016873887.1:p.Tyr500His
XM_017018399.1:c.958T>C	XP_016873888.1:p.Tyr320His
NM_031471.6:c.1498T>C MANE Select	NP_113659.3:p.Tyr500His
NM_001382361.1:c.1498T>C	NP_001369290.1:p.Tyr500His
NM_001382362.1:c.1510T>C	NP_001369291.1:p.Tyr504His
NM_001382363.1:c.958T>C	NP_001369292.1:p.Tyr320His
NM_001382364.1:c.970T>C	NP_001369293.1:p.Tyr324His
NM_001382448.1:c.1498T>C	NP_001369377.1:p.Tyr500His
NM_178443.3:c.1510T>C	NP_848537.1:p.Tyr504His