Canonical Allele Identifier: CA6069094

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 646601
• ClinVar RCV Id: RCV000800920 ; RCV004028042
• dbSNP Id: rs150164798
• ExAC: 11:63987724 G / A
• gnomAD v2: 11-63987724-G-A
• gnomAD v3: 11-64220252-G-A
• gnomAD v4: 11-64220252-G-A
• MyVariant Identifiers: chr11:g.63987724G>A (hg19) ; chr11:g.64220252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220252G>A , CM000673.2:g.64220252G>A	GRCh38
NC_000011.9:g.63987724G>A , CM000673.1:g.63987724G>A	GRCh37
NC_000011.8:g.63744300G>A	NCBI36
NG_016360.1:g.18573G>A , LRG_180:g.18573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1249G>A	ENSP00000279227.5:p.Gly417Ser
ENST00000540554.2:n.2306G>A
ENST00000541252.2:c.697G>A	ENSP00000438885.2:p.Gly233Ser
ENST00000541326.6:n.549G>A
ENST00000544997.6:c.1237G>A	ENSP00000445778.2:p.Gly413Ser
ENST00000546255.2:n.1432G>A
ENST00000698845.1:c.*432G>A	ENSP00000513981.1:n.*432G>A
ENST00000698846.1:n.1374G>A
ENST00000698847.1:c.*642G>A	ENSP00000513982.1:n.*642G>A
ENST00000698848.1:n.426G>A
ENST00000698849.1:n.357G>A
ENST00000698850.1:n.896G>A
ENST00000698852.1:c.1237G>A	ENSP00000513984.1:p.Gly413Ser
ENST00000698853.1:c.*466G>A	ENSP00000513985.1:n.*466G>A
ENST00000698854.1:c.*567G>A	ENSP00000513986.1:n.*567G>A
ENST00000698855.1:n.2889G>A
ENST00000698856.1:n.2474G>A
ENST00000698859.1:n.1401G>A
ENST00000698860.1:c.1249G>A	ENSP00000513988.1:p.Gly417Ser
ENST00000698861.1:c.1237G>A	ENSP00000513989.1:p.Gly413Ser
ENST00000698862.1:c.*533G>A	ENSP00000513990.1:n.*533G>A
ENST00000698863.1:c.1237G>A	ENSP00000513991.1:p.Gly413Ser
ENST00000698864.1:n.1343G>A
ENST00000698865.1:c.1258G>A	ENSP00000513992.1:p.Gly420Ser
ENST00000698866.1:c.*642G>A	ENSP00000513993.1:n.*642G>A
ENST00000698867.1:n.5212G>A
ENST00000698868.1:c.1102G>A	ENSP00000513994.1:p.Gly368Ser
ENST00000698869.1:c.1237G>A	ENSP00000513995.1:p.Gly413Ser
ENST00000698870.1:c.1237G>A	ENSP00000513996.1:p.Gly413Ser
ENST00000698871.1:n.1760G>A
ENST00000698872.1:c.*26G>A	ENSP00000513997.1:n.*26G>A
ENST00000698873.1:c.*432G>A	ENSP00000513998.1:n.*432G>A
ENST00000698874.1:c.697G>A	ENSP00000513999.1:p.Gly233Ser
ENST00000698875.1:n.1097G>A
ENST00000698876.1:n.1176G>A
ENST00000698877.1:n.805G>A
ENST00000698878.1:c.1237G>A	ENSP00000514000.1:p.Gly413Ser
ENST00000698880.1:c.1077G>A
ENST00000345728.10:c.1237G>A MANE Select	ENSP00000339950.5:p.Gly413Ser
ENST00000279227.9:c.1249G>A	ENSP00000279227.5:p.Gly417Ser
ENST00000345728.9:c.1237G>A	ENSP00000339950.5:p.Gly413Ser
ENST00000540957.1:n.390G>A
ENST00000541326.5:n.544G>A
NM_031471.5:c.1237G>A	NP_113659.3:p.Gly413Ser
NM_178443.2:c.1249G>A , LRG_180t1:c.1249G>A	NP_848537.1:p.Gly417Ser
XM_011545294.1:c.1249G>A	XP_011543596.1:p.Gly417Ser
XM_011545295.1:c.709G>A	XP_011543597.1:p.Gly237Ser
XM_011545296.1:c.709G>A	XP_011543598.1:p.Gly237Ser
XM_011545294.3:c.1249G>A	XP_011543596.1:p.Gly417Ser
XM_011545295.2:c.709G>A	XP_011543597.1:p.Gly237Ser
XM_017018398.2:c.1237G>A	XP_016873887.1:p.Gly413Ser
XM_017018399.1:c.697G>A	XP_016873888.1:p.Gly233Ser
NM_031471.6:c.1237G>A MANE Select	NP_113659.3:p.Gly413Ser
NM_001382361.1:c.1237G>A	NP_001369290.1:p.Gly413Ser
NM_001382362.1:c.1249G>A	NP_001369291.1:p.Gly417Ser
NM_001382363.1:c.697G>A	NP_001369292.1:p.Gly233Ser
NM_001382364.1:c.709G>A	NP_001369293.1:p.Gly237Ser
NM_001382448.1:c.1237G>A	NP_001369377.1:p.Gly413Ser
NM_178443.3:c.1249G>A	NP_848537.1:p.Gly417Ser