Canonical Allele Identifier: CA381087887

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 2721299
• ClinVar RCV Id: RCV003499517
• MyVariant Identifiers: chr11:g.63988039G>C (hg19) ; chr11:g.64220567G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220567G>C , CM000673.2:g.64220567G>C	GRCh38
NC_000011.9:g.63988039G>C , CM000673.1:g.63988039G>C	GRCh37
NC_000011.8:g.63744615G>C	NCBI36
NG_016360.1:g.18888G>C , LRG_180:g.18888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1455G>C	ENSP00000279227.5:p.Gly485=
ENST00000540554.2:n.2621G>C
ENST00000541252.2:c.903G>C	ENSP00000438885.2:p.Gly301=
ENST00000541326.6:n.864G>C
ENST00000544997.6:c.1443G>C	ENSP00000445778.2:p.Gly481=
ENST00000545896.2:c.132G>C	ENSP00000440209.2:p.Gly44=
ENST00000546255.2:n.1747G>C
ENST00000698845.1:c.*638G>C	ENSP00000513981.1:n.*638G>C
ENST00000698846.1:n.1689G>C
ENST00000698847.1:c.*848G>C	ENSP00000513982.1:n.*848G>C
ENST00000698849.1:n.563G>C
ENST00000698850.1:n.1211G>C
ENST00000698852.1:c.1443G>C	ENSP00000513984.1:p.Gly481=
ENST00000698853.1:c.*672G>C	ENSP00000513985.1:n.*672G>C
ENST00000698854.1:c.*773G>C	ENSP00000513986.1:n.*773G>C
ENST00000698855.1:n.3095G>C
ENST00000698856.1:n.2789G>C
ENST00000698859.1:n.1607G>C
ENST00000698860.1:c.1455G>C	ENSP00000513988.1:p.Gly485=
ENST00000698861.1:c.1443G>C	ENSP00000513989.1:p.Gly481=
ENST00000698862.1:c.*739G>C	ENSP00000513990.1:n.*739G>C
ENST00000698863.1:c.1443G>C	ENSP00000513991.1:p.Gly481=
ENST00000698864.1:n.1658G>C
ENST00000698865.1:c.1464G>C	ENSP00000513992.1:p.Gly488=
ENST00000698866.1:c.*957G>C	ENSP00000513993.1:n.*957G>C
ENST00000698867.1:n.5418G>C
ENST00000698868.1:c.1308G>C	ENSP00000513994.1:p.Gly436=
ENST00000698869.1:c.1311+241G>C	ENSP00000513995.1:n.1311+241G>C
ENST00000698870.1:c.1443G>C	ENSP00000513996.1:p.Gly481=
ENST00000698871.1:n.1966G>C
ENST00000698872.1:c.*232G>C	ENSP00000513997.1:n.*232G>C
ENST00000698873.1:c.*638G>C	ENSP00000513998.1:n.*638G>C
ENST00000698874.1:c.903G>C	ENSP00000513999.1:p.Gly301=
ENST00000698875.1:n.1303G>C
ENST00000698876.1:n.1491G>C
ENST00000698877.1:n.1011G>C
ENST00000698878.1:c.1437G>C	ENSP00000514000.1:p.Gly479=
ENST00000698880.1:c.1311G>C
ENST00000345728.10:c.1443G>C MANE Select	ENSP00000339950.5:p.Gly481=
ENST00000279227.9:c.1455G>C	ENSP00000279227.5:p.Gly485=
ENST00000345728.9:c.1443G>C	ENSP00000339950.5:p.Gly481=
ENST00000541326.5:n.859G>C
ENST00000545896.1:c.131G>C	ENSP00000440209.1:p.Gly44Ala
NM_031471.5:c.1443G>C	NP_113659.3:p.Gly481=
NM_178443.2:c.1455G>C , LRG_180t1:c.1455G>C	NP_848537.1:p.Gly485=
XM_011545294.1:c.1455G>C	XP_011543596.1:p.Gly485=
XM_011545295.1:c.915G>C	XP_011543597.1:p.Gly305=
XM_011545296.1:c.915G>C	XP_011543598.1:p.Gly305=
XM_011545294.3:c.1455G>C	XP_011543596.1:p.Gly485=
XM_011545295.2:c.915G>C	XP_011543597.1:p.Gly305=
XM_017018398.2:c.1443G>C	XP_016873887.1:p.Gly481=
XM_017018399.1:c.903G>C	XP_016873888.1:p.Gly301=
NM_031471.6:c.1443G>C MANE Select	NP_113659.3:p.Gly481=
NM_001382361.1:c.1443G>C	NP_001369290.1:p.Gly481=
NM_001382362.1:c.1455G>C	NP_001369291.1:p.Gly485=
NM_001382363.1:c.903G>C	NP_001369292.1:p.Gly301=
NM_001382364.1:c.915G>C	NP_001369293.1:p.Gly305=
NM_001382448.1:c.1443G>C	NP_001369377.1:p.Gly481=
NM_178443.3:c.1455G>C	NP_848537.1:p.Gly485=