Canonical Allele Identifier: CA372966227

Gene: FREM1

Linked Data

• dbSNP Id: rs1385717643
• gnomAD v3: 9-14784524-G-A
• gnomAD v4: 9-14784524-G-A
• MyVariant Identifiers: chr9:g.14784522G>A (hg19) ; chr9:g.14784524G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.14784524G>A , CM000671.2:g.14784524G>A	GRCh38
NC_000009.11:g.14784522G>A , CM000671.1:g.14784522G>A	GRCh37
NC_000009.10:g.14774522G>A	NCBI36
NG_017005.2:g.130713C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380880.4:c.4288C>T MANE Select	ENSP00000370262.3:p.Leu1430Phe
ENST00000380875.7:c.3981+8219C>T	ENSP00000370257.3:n.3981+8219C>T
ENST00000380880.3:c.4288C>T	ENSP00000370262.3:p.Leu1430Phe
ENST00000422223.6:c.4288C>T	ENSP00000412940.2:p.Leu1430Phe
ENST00000466679.1:n.318C>T
ENST00000485068.5:n.111C>T
ENST00000497634.2:n.449C>T
NM_144966.5:c.4288C>T	NP_659403.4:p.Leu1430Phe
XM_005251382.2:c.4288C>T	XP_005251439.1:p.Leu1430Phe
XM_006716726.2:c.4288C>T	XP_006716789.1:p.Leu1430Phe
XM_011517748.1:c.4288C>T	XP_011516050.1:p.Leu1430Phe
XM_011517749.1:c.4288C>T	XP_011516051.1:p.Leu1430Phe
XM_011517750.1:c.4288C>T	XP_011516052.1:p.Leu1430Phe
XM_011517751.1:c.4288C>T	XP_011516053.1:p.Leu1430Phe
XM_011517752.1:c.4288C>T	XP_011516054.1:p.Leu1430Phe
XM_011517753.1:c.4288C>T	XP_011516055.1:p.Leu1430Phe
XM_011517754.1:c.4288C>T	XP_011516056.1:p.Leu1430Phe
XM_011517755.1:c.4288C>T	XP_011516057.1:p.Leu1430Phe
XM_011517756.1:c.4288C>T	XP_011516058.1:p.Leu1430Phe
XR_929188.1:n.5074C>T
XR_929487.1:n.89+4507G>A
XM_005251382.4:c.4288C>T	XP_005251439.1:p.Leu1430Phe
XM_005251384.4:c.-158C>T	XP_005251441.1:n.-158C>T
XM_006716729.3:c.-155C>T	XP_006716792.1:n.-155C>T
XM_017014316.2:c.4315C>T	XP_016869805.1:p.Leu1439Phe
XM_017014317.1:c.4315C>T	XP_016869806.1:p.Leu1439Phe
XM_017014319.2:c.4315C>T	XP_016869808.1:p.Leu1439Phe
XM_017014320.2:c.4315C>T	XP_016869809.1:p.Leu1439Phe
XM_017014321.2:c.4315C>T	XP_016869810.1:p.Leu1439Phe
XM_017014322.1:c.4315C>T	XP_016869811.1:p.Leu1439Phe
XM_017014323.1:c.4315C>T	XP_016869812.1:p.Leu1439Phe
XM_017014324.2:c.4315C>T	XP_016869813.1:p.Leu1439Phe
XM_017014325.2:c.4315C>T	XP_016869814.1:p.Leu1439Phe
XM_017014326.1:c.3907C>T	XP_016869815.1:p.Leu1303Phe
XM_017014327.2:c.3391C>T	XP_016869816.1:p.Leu1131Phe
XM_017014328.2:c.4315C>T	XP_016869817.1:p.Leu1439Phe
XM_017014329.2:c.4315C>T	XP_016869818.1:p.Leu1439Phe
XR_001746194.2:n.5101C>T
XR_001746195.2:n.5101C>T
XR_001746197.2:n.5097C>T
NR_163238.1:n.4797+8219C>T
NR_163239.1:n.5043C>T
NM_001379081.2:c.4288C>T MANE Select	NP_001366010.1:p.Leu1430Phe
NM_144966.7:c.4288C>T	NP_659403.4:p.Leu1430Phe
NR_163238.2:n.4797+8219C>T
NR_163239.2:n.5043C>T