Canonical Allele Identifier: CA10629692

Gene: FREM1

Linked Data

• ClinVar Variation Id: 366061
• ClinVar RCV Id: RCV000401448
• dbSNP Id: rs7033371
• gnomAD v2: 9-14735140-T-C
• gnomAD v3: 9-14735142-T-C
• gnomAD v4: 9-14735142-T-C
• MyVariant Identifiers: chr9:g.14735140T>C (hg19) ; chr9:g.14735142T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.14735142T>C , CM000671.2:g.14735142T>C	GRCh38
NC_000009.11:g.14735140T>C , CM000671.1:g.14735140T>C	GRCh37
NC_000009.10:g.14725140T>C	NCBI36
NG_017005.2:g.180095A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422223.6:c.*2254A>G	ENSP00000412940.2:n.*2254A>G
NM_001177704.1:c.*2254A>G	NP_001171175.1:n.*2254A>G
NM_144966.5:c.*2254A>G	NP_659403.4:n.*2254A>G
XM_005251382.2:c.*2254A>G	XP_005251439.1:n.*2254A>G
XM_005251384.3:c.*2254A>G	XP_005251441.1:n.*2254A>G
XM_006716729.2:c.*2254A>G	XP_006716792.1:n.*2254A>G
XM_011517748.1:c.*2254A>G	XP_011516050.1:n.*2254A>G
XM_011517749.1:c.*2254A>G	XP_011516051.1:n.*2254A>G
XM_011517750.1:c.*2254A>G	XP_011516052.1:n.*2254A>G
XM_011517751.1:c.*2254A>G	XP_011516053.1:n.*2254A>G
XM_011517752.1:c.*2254A>G	XP_011516054.1:n.*2254A>G
XM_011517753.1:c.*2405A>G	XP_011516055.1:n.*2405A>G
XM_011517758.1:c.*2254A>G	XP_011516060.1:n.*2254A>G
XM_005251382.4:c.*2254A>G	XP_005251439.1:n.*2254A>G
XM_005251384.4:c.*2254A>G	XP_005251441.1:n.*2254A>G
XM_006716729.3:c.*2254A>G	XP_006716792.1:n.*2254A>G
XM_011517758.2:c.*2254A>G	XP_011516060.1:n.*2254A>G
XM_017014316.2:c.*2254A>G	XP_016869805.1:n.*2254A>G
XM_017014317.1:c.*2254A>G	XP_016869806.1:n.*2254A>G
XM_017014319.2:c.*2254A>G	XP_016869808.1:n.*2254A>G
XM_017014320.2:c.*2254A>G	XP_016869809.1:n.*2254A>G
XM_017014321.2:c.*2254A>G	XP_016869810.1:n.*2254A>G
XM_017014322.1:c.*2254A>G	XP_016869811.1:n.*2254A>G
XM_017014323.1:c.*2254A>G	XP_016869812.1:n.*2254A>G
XM_017014324.2:c.*2254A>G	XP_016869813.1:n.*2254A>G
XM_017014325.2:c.*2405A>G	XP_016869814.1:n.*2405A>G
XM_017014326.1:c.*2254A>G	XP_016869815.1:n.*2254A>G
XM_017014327.2:c.*2254A>G	XP_016869816.1:n.*2254A>G
XR_001746194.2:n.9660A>G
XR_001746195.2:n.9657A>G
NM_001370058.1:c.*2405A>G	NP_001356987.1:n.*2405A>G
NM_001370061.1:c.*2254A>G	NP_001356990.1:n.*2254A>G
NR_163238.1:n.8184A>G
NR_163239.1:n.9602A>G
NR_163242.1:n.4616A>G