Canonical Allele Identifier: CA372960052

Gene: FREM1

Linked Data

• ClinVar Variation Id: 2021030
• ClinVar RCV Id: RCV002862344
• dbSNP Id: rs1064797351
• gnomAD v2: 9-14759900-C-G
• gnomAD v4: 9-14759902-C-G
• MyVariant Identifiers: chr9:g.14759900C>G (hg19) ; chr9:g.14759900_14759902delinsGTG (hg19) ; chr9:g.14759902C>G (hg38) ; chr9:g.14759902_14759904delinsGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.14759902C>G , CM000671.2:g.14759902C>G	GRCh38
NC_000009.11:g.14759900C>G , CM000671.1:g.14759900C>G	GRCh37
NC_000009.10:g.14749900C>G	NCBI36
NG_017005.2:g.155335G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380880.4:c.5205-1G>C MANE Select	ENSP00000370262.3:n.5205-1G>C
ENST00000380875.7:c.3982-9626G>C	ENSP00000370257.3:n.3982-9626G>C
ENST00000380880.3:c.5205-1G>C	ENSP00000370262.3:n.5205-1G>C
ENST00000380894.5:c.813-1G>C	ENSP00000370278.1:n.813-1G>C
ENST00000422223.6:c.5205-1G>C	ENSP00000412940.2:n.5205-1G>C
ENST00000427623.5:c.444-1G>C	ENSP00000412597.1:n.444-1G>C
ENST00000486223.1:n.465-1G>C
NM_001177704.1:c.813-1G>C	NP_001171175.1:n.813-1G>C
NM_144966.5:c.5205-1G>C	NP_659403.4:n.5205-1G>C
XM_005251382.2:c.5205-1G>C	XP_005251439.1:n.5205-1G>C
XM_005251384.3:c.813-1G>C	XP_005251441.1:n.813-1G>C
XM_006716729.2:c.813-1G>C	XP_006716792.1:n.813-1G>C
XM_011517748.1:c.5205-1G>C	XP_011516050.1:n.5205-1G>C
XM_011517749.1:c.5205-1G>C	XP_011516051.1:n.5205-1G>C
XM_011517750.1:c.5205-1G>C	XP_011516052.1:n.5205-1G>C
XM_011517751.1:c.5205-1G>C	XP_011516053.1:n.5205-1G>C
XM_011517752.1:c.5205-1G>C	XP_011516054.1:n.5205-1G>C
XM_011517753.1:c.5205-1G>C	XP_011516055.1:n.5205-1G>C
XM_011517754.1:c.5205-1G>C	XP_011516056.1:n.5205-1G>C
XM_011517755.1:c.5205-1G>C	XP_011516057.1:n.5205-1G>C
XM_011517758.1:c.849-1G>C	XP_011516060.1:n.849-1G>C
XR_929188.1:n.5991-1G>C
XM_005251382.4:c.5205-1G>C	XP_005251439.1:n.5205-1G>C
XM_005251384.4:c.813-1G>C	XP_005251441.1:n.813-1G>C
XM_006716729.3:c.813-1G>C	XP_006716792.1:n.813-1G>C
XM_011517758.2:c.849-1G>C	XP_011516060.1:n.849-1G>C
XM_017014316.2:c.5232-1G>C	XP_016869805.1:n.5232-1G>C
XM_017014317.1:c.5232-1G>C	XP_016869806.1:n.5232-1G>C
XM_017014319.2:c.5232-1G>C	XP_016869808.1:n.5232-1G>C
XM_017014320.2:c.5232-1G>C	XP_016869809.1:n.5232-1G>C
XM_017014321.2:c.5232-1G>C	XP_016869810.1:n.5232-1G>C
XM_017014322.1:c.5232-1G>C	XP_016869811.1:n.5232-1G>C
XM_017014323.1:c.5232-1G>C	XP_016869812.1:n.5232-1G>C
XM_017014324.2:c.5232-1G>C	XP_016869813.1:n.5232-1G>C
XM_017014325.2:c.5232-1G>C	XP_016869814.1:n.5232-1G>C
XM_017014326.1:c.4824-1G>C	XP_016869815.1:n.4824-1G>C
XM_017014327.2:c.4308-1G>C	XP_016869816.1:n.4308-1G>C
XM_017014328.2:c.5232-1G>C	XP_016869817.1:n.5232-1G>C
XM_017014329.2:c.5232-1G>C	XP_016869818.1:n.5232-1G>C
XR_001746194.2:n.6071-1G>C
XR_001746195.2:n.6068-1G>C
NM_001370058.1:c.813-1G>C	NP_001356987.1:n.813-1G>C
NM_001370061.1:c.813-1G>C	NP_001356990.1:n.813-1G>C
NR_163238.1:n.4798-9626G>C
NR_163239.1:n.6013-1G>C
NR_163242.1:n.1177-1G>C
NM_001177704.3:c.813-1G>C	NP_001171175.1:n.813-1G>C
NM_001370058.2:c.813-1G>C	NP_001356987.1:n.813-1G>C
NM_001370061.2:c.813-1G>C	NP_001356990.1:n.813-1G>C
NM_001379081.2:c.5205-1G>C MANE Select	NP_001366010.1:n.5205-1G>C
NM_144966.7:c.5205-1G>C	NP_659403.4:n.5205-1G>C
NR_163238.2:n.4798-9626G>C
NR_163239.2:n.6013-1G>C
NR_163242.2:n.1177-1G>C