Canonical Allele Identifier: CA409452760

Gene: GNAS

Linked Data

• ClinVar Variation Id: 2627910
• ClinVar RCV Id: RCV003389351
• COSMIC: COSM116293 ; COSM116294
• MyVariant Identifiers: chr20:g.57484839C>G (hg19) ; chr20:g.58909784C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909784C>G , CM000682.2:g.58909784C>G	GRCh38
NC_000020.10:g.57484839C>G , CM000682.1:g.57484839C>G	GRCh37
NC_000020.9:g.56918234C>G	NCBI36
NG_016194.1:g.75045C>G
NG_016194.2:g.75045C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2703C>G	ENSP00000265621.6:p.Phe901Leu
ENST00000419558.7:c.*677C>G	ENSP00000416234.2:n.*677C>G
ENST00000453292.7:c.1418C>G	ENSP00000392000.2:n.1418C>G
ENST00000462499.6:c.600C>G	ENSP00000499758.2:p.Phe200Leu
ENST00000464624.7:c.*661C>G	ENSP00000499607.2:n.*661C>G
ENST00000464788.6:c.642C>G	ENSP00000499239.2:p.Phe214Leu
ENST00000467227.6:c.600C>G	ENSP00000499681.2:p.Phe200Leu
ENST00000467321.6:c.642C>G	ENSP00000499523.2:p.Phe214Leu
ENST00000468895.6:c.819C>G	ENSP00000499551.2:p.Phe273Leu
ENST00000469431.6:c.642C>G	ENSP00000499654.2:p.Phe214Leu
ENST00000470512.6:c.645C>G	ENSP00000499552.2:p.Phe215Leu
ENST00000472183.6:c.642C>G	ENSP00000499673.2:p.Phe214Leu
ENST00000475610.2:n.1325C>G
ENST00000476935.6:c.597C>G	ENSP00000499409.2:p.Phe199Leu
ENST00000478585.6:c.600C>G	ENSP00000499762.2:p.Phe200Leu
ENST00000480232.6:c.645C>G	ENSP00000499545.2:p.Phe215Leu
ENST00000481039.6:c.600C>G	ENSP00000499767.2:p.Phe200Leu
ENST00000482112.6:c.597C>G	ENSP00000499794.2:p.Phe199Leu
ENST00000485673.6:c.600C>G	ENSP00000499334.2:p.Phe200Leu
ENST00000488546.6:c.600C>G	ENSP00000499332.2:p.Phe200Leu
ENST00000488652.6:c.642C>G	ENSP00000499435.2:p.Phe214Leu
ENST00000492907.6:c.600C>G	ENSP00000499443.2:p.Phe200Leu
ENST00000603546.2:c.642C>G	ENSP00000474802.2:p.Phe214Leu
ENST00000604005.6:c.642C>G	ENSP00000474219.2:p.Phe214Leu
ENST00000663479.2:c.645C>G	ENSP00000499353.2:p.Phe215Leu
ENST00000667293.2:c.642C>G	ENSP00000499293.2:p.Phe214Leu
ENST00000676826.2:c.2751C>G	ENSP00000504675.2:p.Phe917Leu
ENST00000682092.1:n.5103C>G
ENST00000682134.1:n.2745C>G
ENST00000682411.1:n.2914C>G
ENST00000682590.1:n.5006C>G
ENST00000682680.1:n.5020C>G
ENST00000682803.1:c.492C>G	ENSP00000507069.1:p.Phe164Leu
ENST00000682829.1:n.3147C>G
ENST00000682917.1:n.1347C>G
ENST00000682986.1:n.5236C>G
ENST00000683015.1:c.1589C>G	ENSP00000506815.1:n.1589C>G
ENST00000683632.1:n.5349C>G
ENST00000683932.1:n.6595C>G
ENST00000684284.1:n.3197C>G
ENST00000684466.1:n.1458C>G
ENST00000684644.1:n.5139C>G
ENST00000684761.1:n.1312C>G
ENST00000306090.12:c.723C>G	ENSP00000304472.12:p.Phe241Leu
ENST00000354359.12:c.822C>G	ENSP00000346328.7:p.Phe274Leu
ENST00000371085.8:c.819C>G MANE Select	ENSP00000360126.3:p.Phe273Leu
ENST00000371100.9:c.2748C>G MANE Plus Clinical	ENSP00000360141.3:p.Phe916Leu
ENST00000656419.1:c.348C>G	ENSP00000499614.1:p.Phe116Leu
ENST00000657090.1:c.642C>G	ENSP00000499380.1:p.Phe214Leu
ENST00000667293.1:c.690C>G	ENSP00000499293.1:p.Phe230Leu
ENST00000265620.11:c.774C>G	ENSP00000265620.7:p.Phe258Leu
ENST00000306090.11:c.111C>G	ENSP00000304472.11:p.Phe37Leu
ENST00000313949.11:c.*722C>G	ENSP00000323571.7:n.*722C>G
ENST00000354359.11:c.822C>G	ENSP00000346328.7:p.Phe274Leu
ENST00000371075.7:c.*725C>G MANE Plus Clinical	ENSP00000360115.3:n.*725C>G
ENST00000371085.7:c.819C>G	ENSP00000360126.3:p.Phe273Leu
ENST00000371095.7:c.777C>G	ENSP00000360136.3:p.Phe259Leu
ENST00000371100.8:c.2748C>G	ENSP00000360141.3:p.Phe916Leu
ENST00000371102.8:c.2706C>G	ENSP00000360143.4:p.Phe902Leu
ENST00000464624.6:n.3035C>G
ENST00000470512.5:n.893C>G
ENST00000476196.5:n.1112C>G
ENST00000476935.5:n.808C>G
ENST00000477931.5:n.934C>G
ENST00000480232.5:n.838C>G
ENST00000480975.5:n.818C>G
ENST00000481039.5:n.736C>G
ENST00000487862.5:n.1053C>G
ENST00000488546.5:n.678C>G
ENST00000488652.5:n.909C>G
ENST00000492907.5:n.770C>G
ENST00000494081.5:n.374C>G
ENST00000496934.5:n.2108C>G
NM_000516.4:c.819C>G	NP_000507.1:p.Phe273Leu
NM_000516.5:c.819C>G	NP_000507.1:p.Phe273Leu
NM_001077488.2:c.822C>G	NP_001070956.1:p.Phe274Leu
NM_001077488.3:c.822C>G	NP_001070956.1:p.Phe274Leu
NM_001077489.2:c.774C>G	NP_001070957.1:p.Phe258Leu
NM_001077489.3:c.774C>G	NP_001070957.1:p.Phe258Leu
NM_001077490.1:c.*680C>G	NP_001070958.1:n.*680C>G
NM_001077490.2:c.*680C>G	NP_001070958.1:n.*680C>G
NM_001309840.1:c.642C>G	NP_001296769.1:p.Phe214Leu
NM_001309861.1:c.642C>G	NP_001296790.1:p.Phe214Leu
NM_016592.2:c.*725C>G	NP_057676.1:n.*725C>G
NM_016592.3:c.*725C>G	NP_057676.1:n.*725C>G
NM_080425.2:c.2748C>G	NP_536350.2:p.Phe916Leu
NM_080425.3:c.2748C>G	NP_536350.2:p.Phe916Leu
NM_080426.2:c.777C>G	NP_536351.1:p.Phe259Leu
NM_080426.3:c.777C>G	NP_536351.1:p.Phe259Leu
NR_003259.1:c.-4294966387C>G
XM_017027812.2:c.2751C>G	XP_016883301.1:p.Phe917Leu
XM_017027813.2:c.2706C>G	XP_016883302.1:p.Phe902Leu
XM_017027814.2:c.2703C>G	XP_016883303.1:p.Phe901Leu
XM_017027815.1:c.678C>G	XP_016883304.1:p.Phe226Leu
XM_017027816.1:c.597C>G	XP_016883305.1:p.Phe199Leu
XM_017027817.1:c.597C>G	XP_016883306.1:p.Phe199Leu
XM_017027818.2:c.597C>G	XP_016883307.1:p.Phe199Leu
XM_017027819.1:c.597C>G	XP_016883308.1:p.Phe199Leu
XM_017027820.1:c.597C>G	XP_016883309.1:p.Phe199Leu
XM_024451872.1:c.723C>G	XP_024307640.1:p.Phe241Leu
XM_024451873.1:c.642C>G	XP_024307641.1:p.Phe214Leu
XM_024451874.1:c.642C>G	XP_024307642.1:p.Phe214Leu
XM_024451875.1:c.642C>G	XP_024307643.1:p.Phe214Leu
XR_002958471.1:n.1526C>G
NM_000516.6:c.819C>G	NP_000507.1:p.Phe273Leu
NM_001077488.4:c.822C>G	NP_001070956.1:p.Phe274Leu
NM_001077489.4:c.774C>G	NP_001070957.1:p.Phe258Leu
NM_001309840.2:c.642C>G	NP_001296769.1:p.Phe214Leu
NM_001309861.2:c.642C>G	NP_001296790.1:p.Phe214Leu
NM_016592.4:c.*725C>G	NP_057676.1:n.*725C>G
NM_080426.4:c.777C>G	NP_536351.1:p.Phe259Leu
NM_000516.7:c.819C>G MANE Select	NP_000507.1:p.Phe273Leu
NM_001077488.5:c.822C>G	NP_001070956.1:p.Phe274Leu
NM_001077490.3:c.*680C>G	NP_001070958.1:n.*680C>G
NM_016592.5:c.*725C>G MANE Plus Clinical	NP_057676.1:n.*725C>G
NM_080425.4:c.2748C>G MANE Plus Clinical	NP_536350.2:p.Phe916Leu