Canonical Allele Identifier: CA189380715

Gene: FREM1

Linked Data

• dbSNP Id: rs549789468
• gnomAD v3: 9-14898189-C-T
• gnomAD v4: 9-14898189-C-T
• MyVariant Identifiers: chr9:g.14898187C>T (hg19) ; chr9:g.14898189C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.14898189C>T , CM000671.2:g.14898189C>T	GRCh38
NC_000009.11:g.14898187C>T , CM000671.1:g.14898187C>T	GRCh37
NC_000009.10:g.14888187C>T	NCBI36
NG_017005.2:g.17048G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380880.4:c.-268+11725G>A MANE Select	ENSP00000370262.3:n.-268+11725G>A
ENST00000380875.7:c.-268+11725G>A	ENSP00000370257.3:n.-268+11725G>A
ENST00000380880.3:c.-268+11725G>A	ENSP00000370262.3:n.-268+11725G>A
ENST00000422223.6:c.-268+11725G>A	ENSP00000412940.2:n.-268+11725G>A
NM_144966.5:c.-268+11725G>A	NP_659403.4:n.-268+11725G>A
XM_005251382.2:c.-268+11725G>A	XP_005251439.1:n.-268+11725G>A
XM_006716726.2:c.-268+11725G>A	XP_006716789.1:n.-268+11725G>A
XM_006716728.2:c.-268+11725G>A	XP_006716791.1:n.-268+11725G>A
XM_011517748.1:c.-268+10575G>A	XP_011516050.1:n.-268+10575G>A
XM_011517749.1:c.-268+11933G>A	XP_011516051.1:n.-268+11933G>A
XM_011517750.1:c.-268+13409G>A	XP_011516052.1:n.-268+13409G>A
XM_011517751.1:c.-268+11966G>A	XP_011516053.1:n.-268+11966G>A
XM_011517752.1:c.-268+11725G>A	XP_011516054.1:n.-268+11725G>A
XM_011517753.1:c.-268+11725G>A	XP_011516055.1:n.-268+11725G>A
XM_011517754.1:c.-268+11725G>A	XP_011516056.1:n.-268+11725G>A
XM_011517755.1:c.-268+11725G>A	XP_011516057.1:n.-268+11725G>A
XM_011517756.1:c.-268+11725G>A	XP_011516058.1:n.-268+11725G>A
XM_011517757.1:c.-268+11725G>A	XP_011516059.1:n.-268+11725G>A
XR_929188.1:n.519+11725G>A
XR_929190.1:n.519+11725G>A
XM_005251382.4:c.-268+11725G>A	XP_005251439.1:n.-268+11725G>A
XM_017014316.2:c.-268+11725G>A	XP_016869805.1:n.-268+11725G>A
XM_017014317.1:c.-268+11725G>A	XP_016869806.1:n.-268+11725G>A
XM_017014319.2:c.-268+10575G>A	XP_016869808.1:n.-268+10575G>A
XM_017014320.2:c.-268+10575G>A	XP_016869809.1:n.-268+10575G>A
XM_017014321.2:c.-268+11933G>A	XP_016869810.1:n.-268+11933G>A
XM_017014322.1:c.-268+11966G>A	XP_016869811.1:n.-268+11966G>A
XM_017014323.1:c.-268+13409G>A	XP_016869812.1:n.-268+13409G>A
XM_017014324.2:c.-268+11725G>A	XP_016869813.1:n.-268+11725G>A
XM_017014325.2:c.-268+11725G>A	XP_016869814.1:n.-268+11725G>A
XM_017014328.2:c.-268+11725G>A	XP_016869817.1:n.-268+11725G>A
XM_017014329.2:c.-268+11725G>A	XP_016869818.1:n.-268+11725G>A
XM_017014330.2:c.-268+11725G>A	XP_016869819.1:n.-268+11725G>A
XR_001746194.2:n.519+11725G>A
XR_001746195.2:n.519+11725G>A
XR_001746196.2:n.519+11725G>A
XR_001746197.2:n.519+11725G>A
NM_001370060.1:c.-268+11725G>A	NP_001356989.1:n.-268+11725G>A
NM_001370063.1:c.-268+11725G>A	NP_001356992.1:n.-268+11725G>A
NM_001370065.1:c.-268+11933G>A	NP_001356994.1:n.-268+11933G>A
NR_163238.1:n.549+11725G>A
NR_163239.1:n.307+11933G>A
NR_163240.1:n.515+11725G>A
NR_163241.1:n.515+11725G>A
NM_001379081.2:c.-268+11725G>A MANE Select	NP_001366010.1:n.-268+11725G>A
NM_144966.7:c.-268+11725G>A	NP_659403.4:n.-268+11725G>A
NR_163238.2:n.549+11725G>A
NR_163239.2:n.307+11933G>A