Canonical Allele Identifier: CA219848

Gene: FREM1

Linked Data

• ClinVar Variation Id: 30764
• ClinVar RCV Id: RCV000023743 ; RCV000059638
• dbSNP Id: rs281875281
• ExAC: 9:14792751 A / C
• gnomAD v2: 9-14792751-A-C
• gnomAD v3: 9-14792753-A-C
• gnomAD v4: 9-14792753-A-C
• MyVariant Identifiers: chr9:g.14792751A>C (hg19) ; chr9:g.14792753A>C (hg38)
• PubMed: PMID:17352387 ; PMID:21507892 ; PMID:23112756

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.14792753A>C , CM000671.2:g.14792753A>C	GRCh38
NC_000009.11:g.14792751A>C , CM000671.1:g.14792751A>C	GRCh37
NC_000009.10:g.14782751A>C	NCBI36
NG_017005.2:g.122484T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380880.4:c.3971T>G MANE Select	ENSP00000370262.3:p.Leu1324Arg
ENST00000380875.7:c.3971T>G	ENSP00000370257.3:p.Leu1324Arg
ENST00000380880.3:c.3971T>G	ENSP00000370262.3:p.Leu1324Arg
ENST00000422223.6:c.3971T>G	ENSP00000412940.2:p.Leu1324Arg
ENST00000466679.1:n.49T>G
ENST00000497634.2:n.132T>G
NM_144966.5:c.3971T>G	NP_659403.4:p.Leu1324Arg
XM_005251382.2:c.3971T>G	XP_005251439.1:p.Leu1324Arg
XM_006716726.2:c.3971T>G	XP_006716789.1:p.Leu1324Arg
XM_006716728.2:c.3971T>G	XP_006716791.1:p.Leu1324Arg
XM_011517748.1:c.3971T>G	XP_011516050.1:p.Leu1324Arg
XM_011517749.1:c.3971T>G	XP_011516051.1:p.Leu1324Arg
XM_011517750.1:c.3971T>G	XP_011516052.1:p.Leu1324Arg
XM_011517751.1:c.3971T>G	XP_011516053.1:p.Leu1324Arg
XM_011517752.1:c.3971T>G	XP_011516054.1:p.Leu1324Arg
XM_011517753.1:c.3971T>G	XP_011516055.1:p.Leu1324Arg
XM_011517754.1:c.3971T>G	XP_011516056.1:p.Leu1324Arg
XM_011517755.1:c.3971T>G	XP_011516057.1:p.Leu1324Arg
XM_011517756.1:c.3971T>G	XP_011516058.1:p.Leu1324Arg
XM_011517757.1:c.3971T>G	XP_011516059.1:p.Leu1324Arg
XR_929188.1:n.4757T>G
XR_929190.1:n.4757T>G
XR_929487.1:n.90-942A>C
XM_005251382.4:c.3971T>G	XP_005251439.1:p.Leu1324Arg
XM_005251384.4:c.-471T>G	XP_005251441.1:n.-471T>G
XM_006716729.3:c.-472T>G	XP_006716792.1:n.-472T>G
XM_017014316.2:c.3998T>G	XP_016869805.1:p.Leu1333Arg
XM_017014317.1:c.3998T>G	XP_016869806.1:p.Leu1333Arg
XM_017014319.2:c.3998T>G	XP_016869808.1:p.Leu1333Arg
XM_017014320.2:c.3998T>G	XP_016869809.1:p.Leu1333Arg
XM_017014321.2:c.3998T>G	XP_016869810.1:p.Leu1333Arg
XM_017014322.1:c.3998T>G	XP_016869811.1:p.Leu1333Arg
XM_017014323.1:c.3998T>G	XP_016869812.1:p.Leu1333Arg
XM_017014324.2:c.3998T>G	XP_016869813.1:p.Leu1333Arg
XM_017014325.2:c.3998T>G	XP_016869814.1:p.Leu1333Arg
XM_017014326.1:c.3590T>G	XP_016869815.1:p.Leu1197Arg
XM_017014327.2:c.3074T>G	XP_016869816.1:p.Leu1025Arg
XM_017014328.2:c.3998T>G	XP_016869817.1:p.Leu1333Arg
XM_017014329.2:c.3998T>G	XP_016869818.1:p.Leu1333Arg
XM_017014330.2:c.3998T>G	XP_016869819.1:p.Leu1333Arg
XR_001746194.2:n.4784T>G
XR_001746195.2:n.4784T>G
XR_001746196.2:n.4784T>G
XR_001746197.2:n.4784T>G
NR_163238.1:n.4787T>G
NR_163239.1:n.4726T>G
NM_001379081.2:c.3971T>G MANE Select	NP_001366010.1:p.Leu1324Arg
NM_144966.7:c.3971T>G	NP_659403.4:p.Leu1324Arg
NR_163238.2:n.4787T>G
NR_163239.2:n.4726T>G