Canonical Allele Identifier: CA632115274

Gene: SMARCA4

Linked Data

• ClinVar Variation Id: 1740482
• ClinVar RCV Id: RCV002333901 ; RCV003164535
• dbSNP Id: rs1427203240
• gnomAD v2: 19-11152130-CAGA-C
• gnomAD v3: 19-11041454-CAGA-C
• gnomAD v4: 19-11041454-CAGA-C
• COSMIC: COSM5881358 ; COSM5881359
• MyVariant Identifiers: chr19:g.11152131_11152133del (hg19) ; chr19:g.11041455_11041457del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11041460_11041462del , CM000681.2:g.11041460_11041462del	GRCh38
NC_000019.9:g.11152136_11152138del , CM000681.1:g.11152136_11152138del	GRCh37
NC_000019.8:g.11013136_11013138del	NCBI36
NG_011556.2:g.85539_85541del
NG_011556.3:g.85529_85531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711079.1:c.4420_4422del	ENSP00000518564.1:p.Lys1474del
ENST00000704344.1:c.4324_4326del	ENSP00000515855.1:p.Lys1442del
ENST00000646693.2:c.4420_4422del MANE Plus Clinical	ENSP00000495368.1:p.Lys1474del
ENST00000344626.10:c.4324_4326del MANE Select	ENSP00000343896.4:p.Lys1442del
ENST00000429416.8:c.4324_4326del	ENSP00000395654.1:p.Lys1442del
ENST00000444061.8:c.4225_4227del	ENSP00000392837.2:p.Lys1409del
ENST00000538456.4:c.491_493del
ENST00000586985.2:c.451_453del	ENSP00000467796.2:p.Lys151del
ENST00000590574.6:c.4225_4227del	ENSP00000466963.1:p.Lys1409del
ENST00000592158.2:c.265_267del	ENSP00000467200.2:p.Lys89del
ENST00000592604.6:n.2565_2567del
ENST00000642350.1:c.2818_2820del	ENSP00000495355.1:p.Lys940del
ENST00000642508.1:c.1781_1783del
ENST00000642628.1:c.4321_4323del	ENSP00000496498.1:p.Lys1441del
ENST00000642726.1:c.4321_4323del	ENSP00000494353.1:p.Lys1441del
ENST00000643208.1:c.2881_2883del	ENSP00000496074.1:p.Lys961del
ENST00000643296.1:c.4234_4236del	ENSP00000496635.1:p.Lys1412del
ENST00000643534.1:c.2609_2611del
ENST00000643549.1:c.4330_4332del	ENSP00000493975.1:p.Lys1444del
ENST00000643857.1:c.2688_2690del
ENST00000643929.1:n.817_819del
ENST00000643995.1:c.3747_3749del
ENST00000644065.1:c.2961_2963del
ENST00000644327.1:c.2996_2998del
ENST00000644737.1:c.4234_4236del	ENSP00000495548.1:p.Lys1412del
ENST00000644963.1:c.2978_2980del
ENST00000645061.1:c.2812_2814del	ENSP00000493690.1:p.Lys938del
ENST00000645236.1:c.873_875del
ENST00000645387.1:c.22_24del	ENSP00000496135.1:p.Lys8del
ENST00000645460.1:c.4225_4227del	ENSP00000494463.1:p.Lys1409del
ENST00000645648.1:c.2235_2237del	ENSP00000493521.1:n.2235_2237del
ENST00000646183.1:c.2667_2669del
ENST00000646484.1:c.4225_4227del	ENSP00000495536.1:p.Lys1409del
ENST00000646510.1:c.4225_4227del	ENSP00000494772.1:p.Lys1409del
ENST00000646593.1:c.2172_2174del	ENSP00000494341.1:n.2172_2174del
ENST00000646693.1:c.4420_4422del	ENSP00000495368.1:p.Lys1474del
ENST00000646746.1:c.2624_2626del
ENST00000646889.1:n.827_829del
ENST00000647230.1:c.4225_4227del	ENSP00000494676.1:p.Lys1409del
ENST00000647268.1:c.2578_2580del	ENSP00000496176.1:p.Lys860del
ENST00000344626.8:c.4324_4326del	ENSP00000343896.4:p.Lys1442del
ENST00000413806.7:c.4426_4428del	ENSP00000414727.3:p.Lys1476del
ENST00000429416.7:c.4324_4326del	ENSP00000395654.1:p.Lys1442del
ENST00000444061.7:c.4225_4227del	ENSP00000392837.2:p.Lys1409del
ENST00000450717.7:c.4420_4422del	ENSP00000397783.3:p.Lys1474del
ENST00000538456.3:n.638_640del
ENST00000541122.6:c.4234_4236del	ENSP00000445036.2:p.Lys1412del
ENST00000585799.5:n.2762_2764del
ENST00000589677.5:c.4234_4236del	ENSP00000464778.1:p.Lys1412del
ENST00000590574.5:c.4225_4227del	ENSP00000466963.1:p.Lys1409del
ENST00000591595.5:n.2297_2299del
ENST00000592158.1:c.403_405del	ENSP00000467200.1:p.Lys135del
ENST00000592604.5:n.2147_2149del
NM_001128844.1:c.4324_4326del	NP_001122316.1:p.Lys1442del
NM_001128845.1:c.4234_4236del	NP_001122317.1:p.Lys1412del
NM_001128846.1:c.4234_4236del	NP_001122318.1:p.Lys1412del
NM_001128847.1:c.4225_4227del	NP_001122319.1:p.Lys1409del
NM_001128848.1:c.4225_4227del	NP_001122320.1:p.Lys1409del
NM_001128849.1:c.4420_4422del	NP_001122321.1:p.Lys1474del
NM_003072.3:c.4324_4326del	NP_003063.2:p.Lys1442del
XM_005260028.2:c.4333_4335del	XP_005260085.1:p.Lys1445del
XM_005260030.2:c.4321_4323del	XP_005260087.1:p.Lys1441del
XM_005260031.2:c.4324_4326del	XP_005260088.1:p.Lys1442del
XM_005260032.2:c.4234_4236del	XP_005260089.1:p.Lys1412del
XM_005260033.2:c.4234_4236del	XP_005260090.1:p.Lys1412del
XM_005260034.2:c.4225_4227del	XP_005260091.1:p.Lys1409del
XM_005260035.2:c.4225_4227del	XP_005260092.1:p.Lys1409del
XM_006722845.2:c.4420_4422del	XP_006722908.1:p.Lys1474del
XM_006722846.2:c.4420_4422del	XP_006722909.1:p.Lys1474del
XM_006722847.2:c.4420_4422del	XP_006722910.1:p.Lys1474del
XM_011528198.1:c.4420_4422del	XP_011526500.1:p.Lys1474del
XM_024451658.1:c.4420_4422del	XP_024307426.1:p.Lys1474del
XM_024451659.1:c.4420_4422del	XP_024307427.1:p.Lys1474del
XM_024451660.1:c.4333_4335del	XP_024307428.1:p.Lys1445del
XM_024451661.1:c.4321_4323del	XP_024307429.1:p.Lys1441del
XM_024451662.1:c.4324_4326del	XP_024307430.1:p.Lys1442del
XM_024451663.1:c.4321_4323del	XP_024307431.1:p.Lys1441del
XM_024451664.1:c.4234_4236del	XP_024307432.1:p.Lys1412del
XM_024451665.1:c.4234_4236del	XP_024307433.1:p.Lys1412del
XM_024451666.1:c.4225_4227del	XP_024307434.1:p.Lys1409del
XM_024451667.1:c.4225_4227del	XP_024307435.1:p.Lys1409del
NM_001128844.3:c.4324_4326del	NP_001122316.1:p.Lys1442del
NM_001128845.2:c.4234_4236del	NP_001122317.1:p.Lys1412del
NM_001128846.2:c.4234_4236del	NP_001122318.1:p.Lys1412del
NM_001128847.4:c.4225_4227del	NP_001122319.1:p.Lys1409del
NM_001128848.2:c.4225_4227del	NP_001122320.1:p.Lys1409del
NM_001128849.3:c.4420_4422del	NP_001122321.1:p.Lys1474del
NM_001374457.1:c.4225_4227del	NP_001361386.1:p.Lys1409del
NM_003072.5:c.4324_4326del MANE Select	NP_003063.2:p.Lys1442del
NR_164683.1:n.4714_4716del
NM_001387283.1:c.4420_4422del MANE Plus Clinical	NP_001374212.1:p.Lys1474del