Canonical Allele Identifier: CA9204678

Gene: SMARCA4

Linked Data

• ClinVar Variation Id: 480576
• ClinVar RCV Id: RCV000561049 ; RCV001809566 ; RCV000819309
• dbSNP Id: rs755455174
• ExAC: 19:11152043 C / T
• gnomAD v2: 19-11152043-C-T
• gnomAD v4: 19-11041367-C-T
• COSMIC: COSM4074063 ; COSM4074064
• MyVariant Identifiers: chr19:g.11152043C>T (hg19) ; chr19:g.11041367C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11041367C>T , CM000681.2:g.11041367C>T	GRCh38
NC_000019.9:g.11152043C>T , CM000681.1:g.11152043C>T	GRCh37
NC_000019.8:g.11013043C>T	NCBI36
NG_011556.2:g.85446C>T
NG_011556.3:g.85436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711079.1:c.4327C>T	ENSP00000518564.1:p.Arg1443Trp
ENST00000704344.1:c.4231C>T	ENSP00000515855.1:p.Arg1411Trp
ENST00000646693.2:c.4327C>T MANE Plus Clinical	ENSP00000495368.1:p.Arg1443Trp
ENST00000344626.10:c.4231C>T MANE Select	ENSP00000343896.4:p.Arg1411Trp
ENST00000429416.8:c.4231C>T	ENSP00000395654.1:p.Arg1411Trp
ENST00000444061.8:c.4132C>T	ENSP00000392837.2:p.Arg1378Trp
ENST00000538456.4:c.398C>T
ENST00000586985.2:c.358C>T	ENSP00000467796.2:p.Arg120Trp
ENST00000590574.6:c.4132C>T	ENSP00000466963.1:p.Arg1378Trp
ENST00000592158.2:c.172C>T	ENSP00000467200.2:p.Arg58Trp
ENST00000592604.6:n.2472C>T
ENST00000642350.1:c.2725C>T	ENSP00000495355.1:p.Arg909Trp
ENST00000642508.1:c.1688C>T
ENST00000642628.1:c.4228C>T	ENSP00000496498.1:p.Arg1410Trp
ENST00000642726.1:c.4228C>T	ENSP00000494353.1:p.Arg1410Trp
ENST00000643208.1:c.2788C>T	ENSP00000496074.1:p.Arg930Trp
ENST00000643296.1:c.4141C>T	ENSP00000496635.1:p.Arg1381Trp
ENST00000643534.1:c.2516C>T
ENST00000643549.1:c.4237C>T	ENSP00000493975.1:p.Arg1413Trp
ENST00000643857.1:c.2595C>T
ENST00000643929.1:n.724C>T
ENST00000643995.1:c.3654C>T
ENST00000644065.1:c.2868C>T
ENST00000644327.1:c.2903C>T
ENST00000644737.1:c.4141C>T	ENSP00000495548.1:p.Arg1381Trp
ENST00000644963.1:c.2885C>T
ENST00000645061.1:c.2719C>T	ENSP00000493690.1:p.Arg907Trp
ENST00000645236.1:c.780C>T
ENST00000645460.1:c.4132C>T	ENSP00000494463.1:p.Arg1378Trp
ENST00000645648.1:c.2142C>T	ENSP00000493521.1:n.2142C>T
ENST00000646183.1:c.2574C>T
ENST00000646484.1:c.4132C>T	ENSP00000495536.1:p.Arg1378Trp
ENST00000646510.1:c.4132C>T	ENSP00000494772.1:p.Arg1378Trp
ENST00000646593.1:c.2079C>T	ENSP00000494341.1:n.2079C>T
ENST00000646693.1:c.4327C>T	ENSP00000495368.1:p.Arg1443Trp
ENST00000646746.1:c.2531C>T
ENST00000646889.1:n.734C>T
ENST00000647230.1:c.4132C>T	ENSP00000494676.1:p.Arg1378Trp
ENST00000647268.1:c.2485C>T	ENSP00000496176.1:p.Arg829Trp
ENST00000344626.8:c.4231C>T	ENSP00000343896.4:p.Arg1411Trp
ENST00000413806.7:c.4333C>T	ENSP00000414727.3:p.Arg1445Trp
ENST00000429416.7:c.4231C>T	ENSP00000395654.1:p.Arg1411Trp
ENST00000444061.7:c.4132C>T	ENSP00000392837.2:p.Arg1378Trp
ENST00000450717.7:c.4327C>T	ENSP00000397783.3:p.Arg1443Trp
ENST00000538456.3:n.545C>T
ENST00000541122.6:c.4141C>T	ENSP00000445036.2:p.Arg1381Trp
ENST00000585799.5:n.2669C>T
ENST00000589677.5:c.4141C>T	ENSP00000464778.1:p.Arg1381Trp
ENST00000590574.5:c.4132C>T	ENSP00000466963.1:p.Arg1378Trp
ENST00000591595.5:n.2204C>T
ENST00000592158.1:c.310C>T	ENSP00000467200.1:p.Arg104Trp
ENST00000592604.5:n.2054C>T
NM_001128844.1:c.4231C>T	NP_001122316.1:p.Arg1411Trp
NM_001128845.1:c.4141C>T	NP_001122317.1:p.Arg1381Trp
NM_001128846.1:c.4141C>T	NP_001122318.1:p.Arg1381Trp
NM_001128847.1:c.4132C>T	NP_001122319.1:p.Arg1378Trp
NM_001128848.1:c.4132C>T	NP_001122320.1:p.Arg1378Trp
NM_001128849.1:c.4327C>T	NP_001122321.1:p.Arg1443Trp
NM_003072.3:c.4231C>T	NP_003063.2:p.Arg1411Trp
XM_005260028.2:c.4240C>T	XP_005260085.1:p.Arg1414Trp
XM_005260030.2:c.4228C>T	XP_005260087.1:p.Arg1410Trp
XM_005260031.2:c.4231C>T	XP_005260088.1:p.Arg1411Trp
XM_005260032.2:c.4141C>T	XP_005260089.1:p.Arg1381Trp
XM_005260033.2:c.4141C>T	XP_005260090.1:p.Arg1381Trp
XM_005260034.2:c.4132C>T	XP_005260091.1:p.Arg1378Trp
XM_005260035.2:c.4132C>T	XP_005260092.1:p.Arg1378Trp
XM_006722845.2:c.4327C>T	XP_006722908.1:p.Arg1443Trp
XM_006722846.2:c.4327C>T	XP_006722909.1:p.Arg1443Trp
XM_006722847.2:c.4327C>T	XP_006722910.1:p.Arg1443Trp
XM_011528198.1:c.4327C>T	XP_011526500.1:p.Arg1443Trp
XM_024451658.1:c.4327C>T	XP_024307426.1:p.Arg1443Trp
XM_024451659.1:c.4327C>T	XP_024307427.1:p.Arg1443Trp
XM_024451660.1:c.4240C>T	XP_024307428.1:p.Arg1414Trp
XM_024451661.1:c.4228C>T	XP_024307429.1:p.Arg1410Trp
XM_024451662.1:c.4231C>T	XP_024307430.1:p.Arg1411Trp
XM_024451663.1:c.4228C>T	XP_024307431.1:p.Arg1410Trp
XM_024451664.1:c.4141C>T	XP_024307432.1:p.Arg1381Trp
XM_024451665.1:c.4141C>T	XP_024307433.1:p.Arg1381Trp
XM_024451666.1:c.4132C>T	XP_024307434.1:p.Arg1378Trp
XM_024451667.1:c.4132C>T	XP_024307435.1:p.Arg1378Trp
NM_001128844.3:c.4231C>T	NP_001122316.1:p.Arg1411Trp
NM_001128845.2:c.4141C>T	NP_001122317.1:p.Arg1381Trp
NM_001128846.2:c.4141C>T	NP_001122318.1:p.Arg1381Trp
NM_001128847.4:c.4132C>T	NP_001122319.1:p.Arg1378Trp
NM_001128848.2:c.4132C>T	NP_001122320.1:p.Arg1378Trp
NM_001128849.3:c.4327C>T	NP_001122321.1:p.Arg1443Trp
NM_001374457.1:c.4132C>T	NP_001361386.1:p.Arg1378Trp
NM_003072.5:c.4231C>T MANE Select	NP_003063.2:p.Arg1411Trp
NR_164683.1:n.4621C>T
NM_001387283.1:c.4327C>T MANE Plus Clinical	NP_001374212.1:p.Arg1443Trp