Canonical Allele Identifier: CA505490454

Gene: SMARCA4

Linked Data

• ClinVar Variation Id: 1101561
• ClinVar RCV Id: RCV001424542
• dbSNP Id: rs2146454794
• gnomAD v4: 19-11023598-C-T
• MyVariant Identifiers: chr19:g.11134274C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11023598C>T , CM000681.2:g.11023598C>T	GRCh38
NC_000019.9:g.11134274C>T , CM000681.1:g.11134274C>T	GRCh37
NC_000019.8:g.10995274C>T	NCBI36
NG_011556.2:g.67677C>T
NG_011556.3:g.67667C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711079.1:c.2940C>T	ENSP00000518564.1:p.Leu980=
ENST00000704344.1:c.2940C>T	ENSP00000515855.1:p.Leu980=
ENST00000704345.1:c.2931C>T	ENSP00000515856.1:p.Leu977=
ENST00000646693.2:c.2940C>T MANE Plus Clinical	ENSP00000495368.1:p.Leu980=
ENST00000344626.10:c.2940C>T MANE Select	ENSP00000343896.4:p.Leu980=
ENST00000429416.8:c.2940C>T	ENSP00000395654.1:p.Leu980=
ENST00000444061.8:c.2940C>T	ENSP00000392837.2:p.Leu980=
ENST00000590574.6:c.2940C>T	ENSP00000466963.1:p.Leu980=
ENST00000591545.6:c.2813C>T
ENST00000592604.6:n.1271C>T
ENST00000642350.1:c.1425C>T	ENSP00000495355.1:p.Leu475=
ENST00000642508.1:c.301C>T
ENST00000642628.1:c.2940C>T	ENSP00000496498.1:p.Leu980=
ENST00000642726.1:c.2940C>T	ENSP00000494353.1:p.Leu980=
ENST00000643208.1:c.1497C>T	ENSP00000496074.1:p.Leu499=
ENST00000643296.1:c.2940C>T	ENSP00000496635.1:p.Leu980=
ENST00000643534.1:c.1225C>T
ENST00000643549.1:c.2940C>T	ENSP00000493975.1:p.Leu980=
ENST00000643857.1:c.1295C>T
ENST00000643995.1:c.2354C>T
ENST00000644065.1:c.1667C>T
ENST00000644267.1:n.1295C>T
ENST00000644290.1:c.1197C>T
ENST00000644327.1:c.1711C>T
ENST00000644737.1:c.2940C>T	ENSP00000495548.1:p.Leu980=
ENST00000644963.1:c.1585C>T
ENST00000645061.1:c.1428C>T	ENSP00000493690.1:p.Leu476=
ENST00000645460.1:c.2940C>T	ENSP00000494463.1:p.Leu980=
ENST00000645648.1:c.804C>T	ENSP00000493521.1:p.Leu268=
ENST00000646183.1:c.1286C>T
ENST00000646236.1:c.423C>T	ENSP00000493925.1:p.Leu141=
ENST00000646484.1:c.2940C>T	ENSP00000495536.1:p.Leu980=
ENST00000646510.1:c.2940C>T	ENSP00000494772.1:p.Leu980=
ENST00000646513.1:c.774C>T	ENSP00000495457.1:p.Leu258=
ENST00000646593.1:c.788C>T	ENSP00000494341.1:n.788C>T
ENST00000646693.1:c.2940C>T	ENSP00000495368.1:p.Leu980=
ENST00000646746.1:c.1240C>T
ENST00000647230.1:c.2940C>T	ENSP00000494676.1:p.Leu980=
ENST00000647268.1:c.1293C>T	ENSP00000496176.1:p.Leu431=
ENST00000344626.8:c.2940C>T	ENSP00000343896.4:p.Leu980=
ENST00000413806.7:c.3132C>T	ENSP00000414727.3:p.Leu1044=
ENST00000429416.7:c.2940C>T	ENSP00000395654.1:p.Leu980=
ENST00000444061.7:c.2940C>T	ENSP00000392837.2:p.Leu980=
ENST00000450717.7:c.2940C>T	ENSP00000397783.3:p.Leu980=
ENST00000541122.6:c.2940C>T	ENSP00000445036.2:p.Leu980=
ENST00000585799.5:n.1468C>T
ENST00000589677.5:c.2940C>T	ENSP00000464778.1:p.Leu980=
ENST00000590574.5:c.2940C>T	ENSP00000466963.1:p.Leu980=
ENST00000591545.5:n.2814C>T
ENST00000591595.5:n.1012C>T
ENST00000592604.5:n.853C>T
NM_001128844.1:c.2940C>T	NP_001122316.1:p.Leu980=
NM_001128845.1:c.2940C>T	NP_001122317.1:p.Leu980=
NM_001128846.1:c.2940C>T	NP_001122318.1:p.Leu980=
NM_001128847.1:c.2940C>T	NP_001122319.1:p.Leu980=
NM_001128848.1:c.2940C>T	NP_001122320.1:p.Leu980=
NM_001128849.1:c.2940C>T	NP_001122321.1:p.Leu980=
NM_003072.3:c.2940C>T	NP_003063.2:p.Leu980=
XM_005260028.2:c.2940C>T	XP_005260085.1:p.Leu980=
XM_005260030.2:c.2940C>T	XP_005260087.1:p.Leu980=
XM_005260031.2:c.2940C>T	XP_005260088.1:p.Leu980=
XM_005260032.2:c.2940C>T	XP_005260089.1:p.Leu980=
XM_005260033.2:c.2940C>T	XP_005260090.1:p.Leu980=
XM_005260034.2:c.2940C>T	XP_005260091.1:p.Leu980=
XM_005260035.2:c.2940C>T	XP_005260092.1:p.Leu980=
XM_006722845.2:c.2940C>T	XP_006722908.1:p.Leu980=
XM_006722846.2:c.2940C>T	XP_006722909.1:p.Leu980=
XM_006722847.2:c.2940C>T	XP_006722910.1:p.Leu980=
XM_011528198.1:c.2940C>T	XP_011526500.1:p.Leu980=
XM_024451658.1:c.2940C>T	XP_024307426.1:p.Leu980=
XM_024451659.1:c.2940C>T	XP_024307427.1:p.Leu980=
XM_024451660.1:c.2940C>T	XP_024307428.1:p.Leu980=
XM_024451661.1:c.2940C>T	XP_024307429.1:p.Leu980=
XM_024451662.1:c.2940C>T	XP_024307430.1:p.Leu980=
XM_024451663.1:c.2940C>T	XP_024307431.1:p.Leu980=
XM_024451664.1:c.2940C>T	XP_024307432.1:p.Leu980=
XM_024451665.1:c.2940C>T	XP_024307433.1:p.Leu980=
XM_024451666.1:c.2940C>T	XP_024307434.1:p.Leu980=
XM_024451667.1:c.2940C>T	XP_024307435.1:p.Leu980=
NM_001128844.3:c.2940C>T	NP_001122316.1:p.Leu980=
NM_001128845.2:c.2940C>T	NP_001122317.1:p.Leu980=
NM_001128846.2:c.2940C>T	NP_001122318.1:p.Leu980=
NM_001128847.4:c.2940C>T	NP_001122319.1:p.Leu980=
NM_001128848.2:c.2940C>T	NP_001122320.1:p.Leu980=
NM_001128849.3:c.2940C>T	NP_001122321.1:p.Leu980=
NM_001374457.1:c.2940C>T	NP_001361386.1:p.Leu980=
NM_003072.5:c.2940C>T MANE Select	NP_003063.2:p.Leu980=
NR_164683.1:n.3230C>T
NM_001387283.1:c.2940C>T MANE Plus Clinical	NP_001374212.1:p.Leu980=