Canonical Allele Identifier: CA4990189

Gene: FREM1

Linked Data

• dbSNP Id: rs779046162
• ExAC: 9:14784369 T / A
• gnomAD v2: 9-14784369-T-A
• gnomAD v4: 9-14784371-T-A
• MyVariant Identifiers: chr9:g.14784369T>A (hg19) ; chr9:g.14784371T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.14784371T>A , CM000671.2:g.14784371T>A	GRCh38
NC_000009.11:g.14784369T>A , CM000671.1:g.14784369T>A	GRCh37
NC_000009.10:g.14774369T>A	NCBI36
NG_017005.2:g.130866A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380880.4:c.4441A>T MANE Select	ENSP00000370262.3:p.Arg1481Ter
ENST00000380875.7:c.3981+8372A>T	ENSP00000370257.3:n.3981+8372A>T
ENST00000380880.3:c.4441A>T	ENSP00000370262.3:p.Arg1481Ter
ENST00000422223.6:c.4441A>T	ENSP00000412940.2:p.Arg1481Ter
ENST00000466679.1:n.471A>T
ENST00000485068.5:n.264A>T
ENST00000497634.2:n.602A>T
NM_144966.5:c.4441A>T	NP_659403.4:p.Arg1481Ter
XM_005251382.2:c.4441A>T	XP_005251439.1:p.Arg1481Ter
XM_005251384.3:c.-5A>T	XP_005251441.1:n.-5A>T
XM_006716726.2:c.4441A>T	XP_006716789.1:p.Arg1481Ter
XM_006716729.2:c.-2A>T	XP_006716792.1:n.-2A>T
XM_011517748.1:c.4441A>T	XP_011516050.1:p.Arg1481Ter
XM_011517749.1:c.4441A>T	XP_011516051.1:p.Arg1481Ter
XM_011517750.1:c.4441A>T	XP_011516052.1:p.Arg1481Ter
XM_011517751.1:c.4441A>T	XP_011516053.1:p.Arg1481Ter
XM_011517752.1:c.4441A>T	XP_011516054.1:p.Arg1481Ter
XM_011517753.1:c.4441A>T	XP_011516055.1:p.Arg1481Ter
XM_011517754.1:c.4441A>T	XP_011516056.1:p.Arg1481Ter
XM_011517755.1:c.4441A>T	XP_011516057.1:p.Arg1481Ter
XM_011517756.1:c.4441A>T	XP_011516058.1:p.Ser1481Cys
XR_929188.1:n.5227A>T
XR_929487.1:n.89+4354T>A
XM_005251382.4:c.4441A>T	XP_005251439.1:p.Arg1481Ter
XM_005251384.4:c.-5A>T	XP_005251441.1:n.-5A>T
XM_006716729.3:c.-2A>T	XP_006716792.1:n.-2A>T
XM_017014316.2:c.4468A>T	XP_016869805.1:p.Arg1490Ter
XM_017014317.1:c.4468A>T	XP_016869806.1:p.Arg1490Ter
XM_017014319.2:c.4468A>T	XP_016869808.1:p.Arg1490Ter
XM_017014320.2:c.4468A>T	XP_016869809.1:p.Arg1490Ter
XM_017014321.2:c.4468A>T	XP_016869810.1:p.Arg1490Ter
XM_017014322.1:c.4468A>T	XP_016869811.1:p.Arg1490Ter
XM_017014323.1:c.4468A>T	XP_016869812.1:p.Arg1490Ter
XM_017014324.2:c.4468A>T	XP_016869813.1:p.Arg1490Ter
XM_017014325.2:c.4468A>T	XP_016869814.1:p.Arg1490Ter
XM_017014326.1:c.4060A>T	XP_016869815.1:p.Arg1354Ter
XM_017014327.2:c.3544A>T	XP_016869816.1:p.Arg1182Ter
XM_017014328.2:c.4468A>T	XP_016869817.1:p.Arg1490Ter
XM_017014329.2:c.4468A>T	XP_016869818.1:p.Arg1490Ter
XR_001746194.2:n.5254A>T
XR_001746195.2:n.5254A>T
XR_001746197.2:n.5250A>T
NR_163238.1:n.4797+8372A>T
NR_163239.1:n.5196A>T
NM_001379081.2:c.4441A>T MANE Select	NP_001366010.1:p.Arg1481Ter
NM_144966.7:c.4441A>T	NP_659403.4:p.Arg1481Ter
NR_163238.2:n.4797+8372A>T
NR_163239.2:n.5196A>T