Canonical Allele Identifier: CA404057663

Gene: SMARCA4

Linked Data

• MyVariant Identifiers: chr19:g.11134287G>T (hg19) ; chr19:g.11023611G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11023611G>T , CM000681.2:g.11023611G>T	GRCh38
NC_000019.9:g.11134287G>T , CM000681.1:g.11134287G>T	GRCh37
NC_000019.8:g.10995287G>T	NCBI36
NG_011556.2:g.67690G>T
NG_011556.3:g.67680G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711079.1:c.2953G>T	ENSP00000518564.1:p.Glu985Ter
ENST00000704344.1:c.2953G>T	ENSP00000515855.1:p.Glu985Ter
ENST00000704345.1:c.2944G>T	ENSP00000515856.1:p.Glu982Ter
ENST00000646693.2:c.2953G>T MANE Plus Clinical	ENSP00000495368.1:p.Glu985Ter
ENST00000344626.10:c.2953G>T MANE Select	ENSP00000343896.4:p.Glu985Ter
ENST00000429416.8:c.2953G>T	ENSP00000395654.1:p.Glu985Ter
ENST00000444061.8:c.2953G>T	ENSP00000392837.2:p.Glu985Ter
ENST00000590574.6:c.2953G>T	ENSP00000466963.1:p.Glu985Ter
ENST00000591545.6:c.2826G>T
ENST00000592604.6:n.1284G>T
ENST00000642350.1:c.1438G>T	ENSP00000495355.1:p.Glu480Ter
ENST00000642508.1:c.314G>T
ENST00000642628.1:c.2953G>T	ENSP00000496498.1:p.Glu985Ter
ENST00000642726.1:c.2953G>T	ENSP00000494353.1:p.Glu985Ter
ENST00000643208.1:c.1510G>T	ENSP00000496074.1:p.Glu504Ter
ENST00000643296.1:c.2953G>T	ENSP00000496635.1:p.Glu985Ter
ENST00000643534.1:c.1238G>T
ENST00000643549.1:c.2953G>T	ENSP00000493975.1:p.Glu985Ter
ENST00000643857.1:c.1308G>T
ENST00000643995.1:c.2367G>T
ENST00000644065.1:c.1680G>T
ENST00000644267.1:n.1308G>T
ENST00000644290.1:c.1210G>T
ENST00000644327.1:c.1724G>T
ENST00000644737.1:c.2953G>T	ENSP00000495548.1:p.Glu985Ter
ENST00000644963.1:c.1598G>T
ENST00000645061.1:c.1441G>T	ENSP00000493690.1:p.Glu481Ter
ENST00000645460.1:c.2953G>T	ENSP00000494463.1:p.Glu985Ter
ENST00000645648.1:c.817G>T	ENSP00000493521.1:p.Glu273Ter
ENST00000646183.1:c.1299G>T
ENST00000646236.1:c.436G>T	ENSP00000493925.1:p.Glu146Ter
ENST00000646484.1:c.2953G>T	ENSP00000495536.1:p.Glu985Ter
ENST00000646510.1:c.2953G>T	ENSP00000494772.1:p.Glu985Ter
ENST00000646513.1:c.787G>T	ENSP00000495457.1:p.Glu263Ter
ENST00000646593.1:c.801G>T	ENSP00000494341.1:n.801G>T
ENST00000646693.1:c.2953G>T	ENSP00000495368.1:p.Glu985Ter
ENST00000646746.1:c.1253G>T
ENST00000647230.1:c.2953G>T	ENSP00000494676.1:p.Glu985Ter
ENST00000647268.1:c.1306G>T	ENSP00000496176.1:p.Glu436Ter
ENST00000344626.8:c.2953G>T	ENSP00000343896.4:p.Glu985Ter
ENST00000413806.7:c.3145G>T	ENSP00000414727.3:p.Glu1049Ter
ENST00000429416.7:c.2953G>T	ENSP00000395654.1:p.Glu985Ter
ENST00000444061.7:c.2953G>T	ENSP00000392837.2:p.Glu985Ter
ENST00000450717.7:c.2953G>T	ENSP00000397783.3:p.Glu985Ter
ENST00000541122.6:c.2953G>T	ENSP00000445036.2:p.Glu985Ter
ENST00000585799.5:n.1481G>T
ENST00000589677.5:c.2953G>T	ENSP00000464778.1:p.Glu985Ter
ENST00000590574.5:c.2953G>T	ENSP00000466963.1:p.Glu985Ter
ENST00000591545.5:n.2827G>T
ENST00000591595.5:n.1025G>T
ENST00000592604.5:n.866G>T
NM_001128844.1:c.2953G>T	NP_001122316.1:p.Glu985Ter
NM_001128845.1:c.2953G>T	NP_001122317.1:p.Glu985Ter
NM_001128846.1:c.2953G>T	NP_001122318.1:p.Glu985Ter
NM_001128847.1:c.2953G>T	NP_001122319.1:p.Glu985Ter
NM_001128848.1:c.2953G>T	NP_001122320.1:p.Glu985Ter
NM_001128849.1:c.2953G>T	NP_001122321.1:p.Glu985Ter
NM_003072.3:c.2953G>T	NP_003063.2:p.Glu985Ter
XM_005260028.2:c.2953G>T	XP_005260085.1:p.Glu985Ter
XM_005260030.2:c.2953G>T	XP_005260087.1:p.Glu985Ter
XM_005260031.2:c.2953G>T	XP_005260088.1:p.Glu985Ter
XM_005260032.2:c.2953G>T	XP_005260089.1:p.Glu985Ter
XM_005260033.2:c.2953G>T	XP_005260090.1:p.Glu985Ter
XM_005260034.2:c.2953G>T	XP_005260091.1:p.Glu985Ter
XM_005260035.2:c.2953G>T	XP_005260092.1:p.Glu985Ter
XM_006722845.2:c.2953G>T	XP_006722908.1:p.Glu985Ter
XM_006722846.2:c.2953G>T	XP_006722909.1:p.Glu985Ter
XM_006722847.2:c.2953G>T	XP_006722910.1:p.Glu985Ter
XM_011528198.1:c.2953G>T	XP_011526500.1:p.Glu985Ter
XM_024451658.1:c.2953G>T	XP_024307426.1:p.Glu985Ter
XM_024451659.1:c.2953G>T	XP_024307427.1:p.Glu985Ter
XM_024451660.1:c.2953G>T	XP_024307428.1:p.Glu985Ter
XM_024451661.1:c.2953G>T	XP_024307429.1:p.Glu985Ter
XM_024451662.1:c.2953G>T	XP_024307430.1:p.Glu985Ter
XM_024451663.1:c.2953G>T	XP_024307431.1:p.Glu985Ter
XM_024451664.1:c.2953G>T	XP_024307432.1:p.Glu985Ter
XM_024451665.1:c.2953G>T	XP_024307433.1:p.Glu985Ter
XM_024451666.1:c.2953G>T	XP_024307434.1:p.Glu985Ter
XM_024451667.1:c.2953G>T	XP_024307435.1:p.Glu985Ter
NM_001128844.3:c.2953G>T	NP_001122316.1:p.Glu985Ter
NM_001128845.2:c.2953G>T	NP_001122317.1:p.Glu985Ter
NM_001128846.2:c.2953G>T	NP_001122318.1:p.Glu985Ter
NM_001128847.4:c.2953G>T	NP_001122319.1:p.Glu985Ter
NM_001128848.2:c.2953G>T	NP_001122320.1:p.Glu985Ter
NM_001128849.3:c.2953G>T	NP_001122321.1:p.Glu985Ter
NM_001374457.1:c.2953G>T	NP_001361386.1:p.Glu985Ter
NM_003072.5:c.2953G>T MANE Select	NP_003063.2:p.Glu985Ter
NR_164683.1:n.3243G>T
NM_001387283.1:c.2953G>T MANE Plus Clinical	NP_001374212.1:p.Glu985Ter