Canonical Allele Identifier: CA381088522

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220661-G-T
• COSMIC: COSM6333590 ; COSM6333591
• MyVariant Identifiers: chr11:g.63988133G>T (hg19) ; chr11:g.64220661G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220661G>T , CM000673.2:g.64220661G>T	GRCh38
NC_000011.9:g.63988133G>T , CM000673.1:g.63988133G>T	GRCh37
NC_000011.8:g.63744709G>T	NCBI36
NG_016360.1:g.18982G>T , LRG_180:g.18982G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1549G>T	ENSP00000279227.5:p.Ala517Ser
ENST00000540554.2:n.2715G>T
ENST00000541252.2:c.997G>T	ENSP00000438885.2:p.Ala333Ser
ENST00000541326.6:n.958G>T
ENST00000544997.6:c.1537G>T	ENSP00000445778.2:p.Ala513Ser
ENST00000545896.2:c.226G>T	ENSP00000440209.2:p.Ala76Ser
ENST00000546255.2:n.1841G>T
ENST00000698845.1:c.*732G>T	ENSP00000513981.1:n.*732G>T
ENST00000698846.1:n.1783G>T
ENST00000698847.1:c.*942G>T	ENSP00000513982.1:n.*942G>T
ENST00000698849.1:n.657G>T
ENST00000698850.1:n.1305G>T
ENST00000698852.1:c.1537G>T	ENSP00000513984.1:p.Ala513Ser
ENST00000698853.1:c.*766G>T	ENSP00000513985.1:n.*766G>T
ENST00000698854.1:c.*867G>T	ENSP00000513986.1:n.*867G>T
ENST00000698855.1:n.3189G>T
ENST00000698856.1:n.2883G>T
ENST00000698859.1:n.1701G>T
ENST00000698860.1:c.1549G>T	ENSP00000513988.1:p.Ala517Ser
ENST00000698861.1:c.1537G>T	ENSP00000513989.1:p.Ala513Ser
ENST00000698862.1:c.*833G>T	ENSP00000513990.1:n.*833G>T
ENST00000698863.1:c.1537G>T	ENSP00000513991.1:p.Ala513Ser
ENST00000698864.1:n.1752G>T
ENST00000698865.1:c.1558G>T	ENSP00000513992.1:p.Ala520Ser
ENST00000698866.1:c.*1051G>T	ENSP00000513993.1:n.*1051G>T
ENST00000698867.1:n.5512G>T
ENST00000698868.1:c.1402G>T	ENSP00000513994.1:p.Ala468Ser
ENST00000698869.1:c.1311+335G>T	ENSP00000513995.1:n.1311+335G>T
ENST00000698870.1:c.1537G>T	ENSP00000513996.1:p.Ala513Ser
ENST00000698871.1:n.2060G>T
ENST00000698872.1:c.*326G>T	ENSP00000513997.1:n.*326G>T
ENST00000698873.1:c.*732G>T	ENSP00000513998.1:n.*732G>T
ENST00000698874.1:c.997G>T	ENSP00000513999.1:p.Ala333Ser
ENST00000698875.1:n.1397G>T
ENST00000698876.1:n.1585G>T
ENST00000698877.1:n.1105G>T
ENST00000698878.1:c.1531G>T	ENSP00000514000.1:p.Ala511Ser
ENST00000698880.1:c.1405G>T
ENST00000345728.10:c.1537G>T MANE Select	ENSP00000339950.5:p.Ala513Ser
ENST00000279227.9:c.1549G>T	ENSP00000279227.5:p.Ala517Ser
ENST00000345728.9:c.1537G>T	ENSP00000339950.5:p.Ala513Ser
ENST00000545896.1:c.225G>T	ENSP00000440209.1:p.Arg75Ser
NM_031471.5:c.1537G>T	NP_113659.3:p.Ala513Ser
NM_178443.2:c.1549G>T , LRG_180t1:c.1549G>T	NP_848537.1:p.Ala517Ser
XM_011545294.1:c.1549G>T	XP_011543596.1:p.Ala517Ser
XM_011545295.1:c.1009G>T	XP_011543597.1:p.Ala337Ser
XM_011545296.1:c.1009G>T	XP_011543598.1:p.Ala337Ser
XM_011545294.3:c.1549G>T	XP_011543596.1:p.Ala517Ser
XM_011545295.2:c.1009G>T	XP_011543597.1:p.Ala337Ser
XM_017018398.2:c.1537G>T	XP_016873887.1:p.Ala513Ser
XM_017018399.1:c.997G>T	XP_016873888.1:p.Ala333Ser
NM_031471.6:c.1537G>T MANE Select	NP_113659.3:p.Ala513Ser
NM_001382361.1:c.1537G>T	NP_001369290.1:p.Ala513Ser
NM_001382362.1:c.1549G>T	NP_001369291.1:p.Ala517Ser
NM_001382363.1:c.997G>T	NP_001369292.1:p.Ala333Ser
NM_001382364.1:c.1009G>T	NP_001369293.1:p.Ala337Ser
NM_001382448.1:c.1537G>T	NP_001369377.1:p.Ala513Ser
NM_178443.3:c.1549G>T	NP_848537.1:p.Ala517Ser