Canonical Allele Identifier: CA249047

Gene: FREM1

Linked Data

• ClinVar Variation Id: 218843
• ClinVar RCV Id: RCV000202844 ; RCV001168977 ; RCV001331739 ; RCV002478723 ; RCV002515510
• dbSNP Id: rs200650442
• ExAC: 9:14784398 C / T
• gnomAD v2: 9-14784398-C-T
• gnomAD v3: 9-14784400-C-T
• gnomAD v4: 9-14784400-C-T
• MyVariant Identifiers: chr9:g.14784398C>T (hg19) ; chr9:g.14784400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.14784400C>T , CM000671.2:g.14784400C>T	GRCh38
NC_000009.11:g.14784398C>T , CM000671.1:g.14784398C>T	GRCh37
NC_000009.10:g.14774398C>T	NCBI36
NG_017005.2:g.130837G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380880.4:c.4412G>A MANE Select	ENSP00000370262.3:p.Ser1471Asn
ENST00000380875.7:c.3981+8343G>A	ENSP00000370257.3:n.3981+8343G>A
ENST00000380880.3:c.4412G>A	ENSP00000370262.3:p.Ser1471Asn
ENST00000422223.6:c.4412G>A	ENSP00000412940.2:p.Ser1471Asn
ENST00000466679.1:n.442G>A
ENST00000485068.5:n.235G>A
ENST00000497634.2:n.573G>A
NM_144966.5:c.4412G>A	NP_659403.4:p.Ser1471Asn
XM_005251382.2:c.4412G>A	XP_005251439.1:p.Ser1471Asn
XM_005251384.3:c.-34G>A	XP_005251441.1:n.-34G>A
XM_006716726.2:c.4412G>A	XP_006716789.1:p.Ser1471Asn
XM_006716729.2:c.-31G>A	XP_006716792.1:n.-31G>A
XM_011517748.1:c.4412G>A	XP_011516050.1:p.Ser1471Asn
XM_011517749.1:c.4412G>A	XP_011516051.1:p.Ser1471Asn
XM_011517750.1:c.4412G>A	XP_011516052.1:p.Ser1471Asn
XM_011517751.1:c.4412G>A	XP_011516053.1:p.Ser1471Asn
XM_011517752.1:c.4412G>A	XP_011516054.1:p.Ser1471Asn
XM_011517753.1:c.4412G>A	XP_011516055.1:p.Ser1471Asn
XM_011517754.1:c.4412G>A	XP_011516056.1:p.Ser1471Asn
XM_011517755.1:c.4412G>A	XP_011516057.1:p.Ser1471Asn
XM_011517756.1:c.4412G>A	XP_011516058.1:p.Ser1471Asn
XR_929188.1:n.5198G>A
XR_929487.1:n.89+4383C>T
XM_005251382.4:c.4412G>A	XP_005251439.1:p.Ser1471Asn
XM_005251384.4:c.-34G>A	XP_005251441.1:n.-34G>A
XM_006716729.3:c.-31G>A	XP_006716792.1:n.-31G>A
XM_017014316.2:c.4439G>A	XP_016869805.1:p.Ser1480Asn
XM_017014317.1:c.4439G>A	XP_016869806.1:p.Ser1480Asn
XM_017014319.2:c.4439G>A	XP_016869808.1:p.Ser1480Asn
XM_017014320.2:c.4439G>A	XP_016869809.1:p.Ser1480Asn
XM_017014321.2:c.4439G>A	XP_016869810.1:p.Ser1480Asn
XM_017014322.1:c.4439G>A	XP_016869811.1:p.Ser1480Asn
XM_017014323.1:c.4439G>A	XP_016869812.1:p.Ser1480Asn
XM_017014324.2:c.4439G>A	XP_016869813.1:p.Ser1480Asn
XM_017014325.2:c.4439G>A	XP_016869814.1:p.Ser1480Asn
XM_017014326.1:c.4031G>A	XP_016869815.1:p.Ser1344Asn
XM_017014327.2:c.3515G>A	XP_016869816.1:p.Ser1172Asn
XM_017014328.2:c.4439G>A	XP_016869817.1:p.Ser1480Asn
XM_017014329.2:c.4439G>A	XP_016869818.1:p.Ser1480Asn
XR_001746194.2:n.5225G>A
XR_001746195.2:n.5225G>A
XR_001746197.2:n.5221G>A
NR_163238.1:n.4797+8343G>A
NR_163239.1:n.5167G>A
NM_001379081.2:c.4412G>A MANE Select	NP_001366010.1:p.Ser1471Asn
NM_144966.7:c.4412G>A	NP_659403.4:p.Ser1471Asn
NR_163238.2:n.4797+8343G>A
NR_163239.2:n.5167G>A