Canonical Allele Identifier: CA208251
Gene: SMARCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 212249
ClinVar RCV Id: RCV000194222
dbSNP Id: rs797045982
MyVariant Identifiers: chr19:g.11141503dupG (hg19) chr19:g.11030827dupG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11030827dup , CM000681.2:g.11030827dup GRCh38
NC_000019.9:g.11141503dup , CM000681.1:g.11141503dup GRCh37
NC_000019.8:g.11002503dup NCBI36
NG_011556.2:g.74906dup
NG_011556.3:g.74896dup

Transcript Alleles

HGVS Amino-acid change
ENST00000711079.1:c.3480dup ENSP00000518564.1:p.Leu1161AlafsTer15
ENST00000704344.1:c.3480dup ENSP00000515855.1:p.Leu1161AlafsTer15
ENST00000704345.1:c.3471dup ENSP00000515856.1:p.Leu1158AlafsTer15
ENST00000646693.2:c.3480dup MANE Plus Clinical ENSP00000495368.1:p.Leu1161AlafsTer15
ENST00000344626.10:c.3480dup MANE Select ENSP00000343896.4:p.Leu1161AlafsTer15
ENST00000429416.8:c.3480dup ENSP00000395654.1:p.Leu1161AlafsTer15
ENST00000444061.8:c.3480dup ENSP00000392837.2:p.Leu1161AlafsTer15
ENST00000590574.6:c.3480dup ENSP00000466963.1:p.Leu1161AlafsTer15
ENST00000591545.6:c.3353dup
ENST00000592604.6:n.1811dup
ENST00000642350.1:c.1965dup ENSP00000495355.1:p.Leu656AlafsTer15
ENST00000642508.1:c.841dup
ENST00000642628.1:c.3480dup ENSP00000496498.1:p.Leu1161AlafsTer15
ENST00000642726.1:c.3480dup ENSP00000494353.1:p.Leu1161AlafsTer15
ENST00000643208.1:c.2037dup ENSP00000496074.1:p.Leu680AlafsTer15
ENST00000643296.1:c.3480dup ENSP00000496635.1:p.Leu1161AlafsTer15
ENST00000643534.1:c.1765dup
ENST00000643549.1:c.3480dup ENSP00000493975.1:p.Leu1161AlafsTer15
ENST00000643857.1:c.1835dup
ENST00000643995.1:c.2894dup
ENST00000644065.1:c.2207dup
ENST00000644267.1:n.1835dup
ENST00000644290.1:c.1737dup
ENST00000644327.1:c.2251dup
ENST00000644737.1:c.3480dup ENSP00000495548.1:p.Leu1161AlafsTer15
ENST00000644963.1:c.2125dup
ENST00000645061.1:c.1968dup ENSP00000493690.1:p.Leu657AlafsTer15
ENST00000645236.1:c.29dup
ENST00000645460.1:c.3480dup ENSP00000494463.1:p.Leu1161AlafsTer15
ENST00000645648.1:c.1396dup ENSP00000493521.1:n.1396dup
ENST00000646183.1:c.1826dup
ENST00000646236.1:c.1074dup ENSP00000493925.1:n.1074dup
ENST00000646484.1:c.3480dup ENSP00000495536.1:p.Leu1161AlafsTer15
ENST00000646510.1:c.3480dup ENSP00000494772.1:p.Leu1161AlafsTer15
ENST00000646593.1:c.1328dup ENSP00000494341.1:n.1328dup
ENST00000646693.1:c.3480dup ENSP00000495368.1:p.Leu1161AlafsTer15
ENST00000646746.1:c.1780dup
ENST00000647230.1:c.3480dup ENSP00000494676.1:p.Leu1161AlafsTer15
ENST00000647268.1:c.1833dup ENSP00000496176.1:p.Leu612AlafsTer15
ENST00000344626.8:c.3480dup ENSP00000343896.4:p.Leu1161AlafsTer15
ENST00000413806.7:c.3672dup ENSP00000414727.3:p.Leu1225AlafsTer15
ENST00000429416.7:c.3480dup ENSP00000395654.1:p.Leu1161AlafsTer15
ENST00000444061.7:c.3480dup ENSP00000392837.2:p.Leu1161AlafsTer15
ENST00000450717.7:c.3480dup ENSP00000397783.3:p.Leu1161AlafsTer15
ENST00000541122.6:c.3480dup ENSP00000445036.2:p.Leu1161AlafsTer15
ENST00000585799.5:n.2008dup
ENST00000589677.5:c.3480dup ENSP00000464778.1:p.Leu1161AlafsTer15
ENST00000590574.5:c.3480dup ENSP00000466963.1:p.Leu1161AlafsTer15
ENST00000591545.5:n.3354dup
ENST00000591595.5:n.1552dup
ENST00000592158.1:c.15dup ENSP00000467200.1:p.Leu6AlafsTer15
ENST00000592604.5:n.1393dup
NM_001128844.1:c.3480dup NP_001122316.1:p.Leu1161AlafsTer15
NM_001128845.1:c.3480dup NP_001122317.1:p.Leu1161AlafsTer15
NM_001128846.1:c.3480dup NP_001122318.1:p.Leu1161AlafsTer15
NM_001128847.1:c.3480dup NP_001122319.1:p.Leu1161AlafsTer15
NM_001128848.1:c.3480dup NP_001122320.1:p.Leu1161AlafsTer15
NM_001128849.1:c.3480dup NP_001122321.1:p.Leu1161AlafsTer15
NM_003072.3:c.3480dup NP_003063.2:p.Leu1161AlafsTer15
XM_005260028.2:c.3480dup XP_005260085.1:p.Leu1161AlafsTer15
XM_005260030.2:c.3480dup XP_005260087.1:p.Leu1161AlafsTer15
XM_005260031.2:c.3480dup XP_005260088.1:p.Leu1161AlafsTer15
XM_005260032.2:c.3480dup XP_005260089.1:p.Leu1161AlafsTer15
XM_005260033.2:c.3480dup XP_005260090.1:p.Leu1161AlafsTer15
XM_005260034.2:c.3480dup XP_005260091.1:p.Leu1161AlafsTer15
XM_005260035.2:c.3480dup XP_005260092.1:p.Leu1161AlafsTer15
XM_006722845.2:c.3480dup XP_006722908.1:p.Leu1161AlafsTer15
XM_006722846.2:c.3480dup XP_006722909.1:p.Leu1161AlafsTer15
XM_006722847.2:c.3480dup XP_006722910.1:p.Leu1161AlafsTer15
XM_011528198.1:c.3480dup XP_011526500.1:p.Leu1161AlafsTer15
XM_024451658.1:c.3480dup XP_024307426.1:p.Leu1161AlafsTer15
XM_024451659.1:c.3480dup XP_024307427.1:p.Leu1161AlafsTer15
XM_024451660.1:c.3480dup XP_024307428.1:p.Leu1161AlafsTer15
XM_024451661.1:c.3480dup XP_024307429.1:p.Leu1161AlafsTer15
XM_024451662.1:c.3480dup XP_024307430.1:p.Leu1161AlafsTer15
XM_024451663.1:c.3480dup XP_024307431.1:p.Leu1161AlafsTer15
XM_024451664.1:c.3480dup XP_024307432.1:p.Leu1161AlafsTer15
XM_024451665.1:c.3480dup XP_024307433.1:p.Leu1161AlafsTer15
XM_024451666.1:c.3480dup XP_024307434.1:p.Leu1161AlafsTer15
XM_024451667.1:c.3480dup XP_024307435.1:p.Leu1161AlafsTer15
NM_001128844.3:c.3480dup NP_001122316.1:p.Leu1161AlafsTer15
NM_001128845.2:c.3480dup NP_001122317.1:p.Leu1161AlafsTer15
NM_001128846.2:c.3480dup NP_001122318.1:p.Leu1161AlafsTer15
NM_001128847.4:c.3480dup NP_001122319.1:p.Leu1161AlafsTer15
NM_001128848.2:c.3480dup NP_001122320.1:p.Leu1161AlafsTer15
NM_001128849.3:c.3480dup NP_001122321.1:p.Leu1161AlafsTer15
NM_001374457.1:c.3480dup NP_001361386.1:p.Leu1161AlafsTer15
NM_003072.5:c.3480dup MANE Select NP_003063.2:p.Leu1161AlafsTer15
NR_164683.1:n.3770dup
NM_001387283.1:c.3480dup MANE Plus Clinical NP_001374212.1:p.Leu1161AlafsTer15
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