Canonical Allele Identifier: CA381089776

Gene: FERMT3

Linked Data

• dbSNP Id: rs905523221
• gnomAD v4: 11-64223115-G-C
• MyVariant Identifiers: chr11:g.63990587G>C (hg19) ; chr11:g.64223115G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223115G>C , CM000673.2:g.64223115G>C	GRCh38
NC_000011.9:g.63990587G>C , CM000673.1:g.63990587G>C	GRCh37
NC_000011.8:g.63747163G>C	NCBI36
NG_016360.1:g.21436G>C , LRG_180:g.21436G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1750G>C	ENSP00000279227.5:p.Ala584Pro
ENST00000540554.2:n.3262G>C
ENST00000541252.2:c.1198G>C	ENSP00000438885.2:p.Ala400Pro
ENST00000544997.6:c.1738G>C	ENSP00000445778.2:p.Ala580Pro
ENST00000545896.2:c.302G>C	ENSP00000440209.2:p.Gly101Ala
ENST00000546255.2:n.2042G>C
ENST00000698845.1:c.*933G>C	ENSP00000513981.1:n.*933G>C
ENST00000698846.1:n.1984G>C
ENST00000698847.1:c.*1143G>C	ENSP00000513982.1:n.*1143G>C
ENST00000698850.1:n.3759G>C
ENST00000698852.1:c.1738G>C	ENSP00000513984.1:p.Ala580Pro
ENST00000698853.1:c.*967G>C	ENSP00000513985.1:n.*967G>C
ENST00000698854.1:c.*1068G>C	ENSP00000513986.1:n.*1068G>C
ENST00000698855.1:n.3390G>C
ENST00000698856.1:n.3084G>C
ENST00000698859.1:n.2248G>C
ENST00000698860.1:c.1750G>C	ENSP00000513988.1:p.Ala584Pro
ENST00000698861.1:c.1738G>C	ENSP00000513989.1:p.Ala580Pro
ENST00000698862.1:c.*1034G>C	ENSP00000513990.1:n.*1034G>C
ENST00000698863.1:c.1738G>C	ENSP00000513991.1:p.Ala580Pro
ENST00000698864.1:n.2299G>C
ENST00000698865.1:c.1759G>C	ENSP00000513992.1:p.Ala587Pro
ENST00000698866.1:c.*1526G>C	ENSP00000513993.1:n.*1526G>C
ENST00000698867.1:n.5713G>C
ENST00000698868.1:c.1603G>C	ENSP00000513994.1:p.Ala535Pro
ENST00000698869.1:c.1504G>C	ENSP00000513995.1:p.Ala502Pro
ENST00000698870.1:c.1738G>C	ENSP00000513996.1:p.Ala580Pro
ENST00000698871.1:n.2261G>C
ENST00000698872.1:c.*527G>C	ENSP00000513997.1:n.*527G>C
ENST00000698873.1:c.*933G>C	ENSP00000513998.1:n.*933G>C
ENST00000698874.1:c.1198G>C	ENSP00000513999.1:p.Ala400Pro
ENST00000698875.1:n.1598G>C
ENST00000698876.1:n.1786G>C
ENST00000698877.1:n.1306G>C
ENST00000698878.1:c.1732G>C	ENSP00000514000.1:p.Ala578Pro
ENST00000698880.1:c.1606G>C
ENST00000345728.10:c.1738G>C MANE Select	ENSP00000339950.5:p.Ala580Pro
ENST00000279227.9:c.1750G>C	ENSP00000279227.5:p.Ala584Pro
ENST00000345728.9:c.1738G>C	ENSP00000339950.5:p.Ala580Pro
ENST00000540554.1:n.374G>C
ENST00000545896.1:c.301G>C	ENSP00000440209.1:p.Ala101Pro
NM_031471.5:c.1738G>C	NP_113659.3:p.Ala580Pro
NM_178443.2:c.1750G>C , LRG_180t1:c.1750G>C	NP_848537.1:p.Ala584Pro
XM_011545294.1:c.1750G>C	XP_011543596.1:p.Ala584Pro
XM_011545295.1:c.1210G>C	XP_011543597.1:p.Ala404Pro
XM_011545296.1:c.1210G>C	XP_011543598.1:p.Ala404Pro
XM_011545294.3:c.1750G>C	XP_011543596.1:p.Ala584Pro
XM_011545295.2:c.1210G>C	XP_011543597.1:p.Ala404Pro
XM_017018398.2:c.1738G>C	XP_016873887.1:p.Ala580Pro
XM_017018399.1:c.1198G>C	XP_016873888.1:p.Ala400Pro
NM_031471.6:c.1738G>C MANE Select	NP_113659.3:p.Ala580Pro
NM_001382361.1:c.1738G>C	NP_001369290.1:p.Ala580Pro
NM_001382362.1:c.1750G>C	NP_001369291.1:p.Ala584Pro
NM_001382363.1:c.1198G>C	NP_001369292.1:p.Ala400Pro
NM_001382364.1:c.1210G>C	NP_001369293.1:p.Ala404Pro
NM_001382448.1:c.1738G>C	NP_001369377.1:p.Ala580Pro
NM_178443.3:c.1750G>C	NP_848537.1:p.Ala584Pro