Canonical Allele Identifier: CA404073807

Gene: SMARCA4

Linked Data

• ClinVar Variation Id: 1470820
• ClinVar RCV Id: RCV001964371
• dbSNP Id: rs2146819016
• COSMIC: COSM990763 ; COSM1589622
• MyVariant Identifiers: chr19:g.11152127A>C (hg19) ; chr19:g.11041451A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11041451A>C , CM000681.2:g.11041451A>C	GRCh38
NC_000019.9:g.11152127A>C , CM000681.1:g.11152127A>C	GRCh37
NC_000019.8:g.11013127A>C	NCBI36
NG_011556.2:g.85530A>C
NG_011556.3:g.85520A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711079.1:c.4411A>C	ENSP00000518564.1:p.Lys1471Gln
ENST00000704344.1:c.4315A>C	ENSP00000515855.1:p.Lys1439Gln
ENST00000646693.2:c.4411A>C MANE Plus Clinical	ENSP00000495368.1:p.Lys1471Gln
ENST00000344626.10:c.4315A>C MANE Select	ENSP00000343896.4:p.Lys1439Gln
ENST00000429416.8:c.4315A>C	ENSP00000395654.1:p.Lys1439Gln
ENST00000444061.8:c.4216A>C	ENSP00000392837.2:p.Lys1406Gln
ENST00000538456.4:c.482A>C
ENST00000586985.2:c.442A>C	ENSP00000467796.2:p.Lys148Gln
ENST00000590574.6:c.4216A>C	ENSP00000466963.1:p.Lys1406Gln
ENST00000592158.2:c.256A>C	ENSP00000467200.2:p.Lys86Gln
ENST00000592604.6:n.2556A>C
ENST00000642350.1:c.2809A>C	ENSP00000495355.1:p.Lys937Gln
ENST00000642508.1:c.1772A>C
ENST00000642628.1:c.4312A>C	ENSP00000496498.1:p.Lys1438Gln
ENST00000642726.1:c.4312A>C	ENSP00000494353.1:p.Lys1438Gln
ENST00000643208.1:c.2872A>C	ENSP00000496074.1:p.Lys958Gln
ENST00000643296.1:c.4225A>C	ENSP00000496635.1:p.Lys1409Gln
ENST00000643534.1:c.2600A>C
ENST00000643549.1:c.4321A>C	ENSP00000493975.1:p.Lys1441Gln
ENST00000643857.1:c.2679A>C
ENST00000643929.1:n.808A>C
ENST00000643995.1:c.3738A>C
ENST00000644065.1:c.2952A>C
ENST00000644327.1:c.2987A>C
ENST00000644737.1:c.4225A>C	ENSP00000495548.1:p.Lys1409Gln
ENST00000644963.1:c.2969A>C
ENST00000645061.1:c.2803A>C	ENSP00000493690.1:p.Lys935Gln
ENST00000645236.1:c.864A>C
ENST00000645387.1:c.13A>C	ENSP00000496135.1:p.Lys5Gln
ENST00000645460.1:c.4216A>C	ENSP00000494463.1:p.Lys1406Gln
ENST00000645648.1:c.2226A>C	ENSP00000493521.1:n.2226A>C
ENST00000646183.1:c.2658A>C
ENST00000646484.1:c.4216A>C	ENSP00000495536.1:p.Lys1406Gln
ENST00000646510.1:c.4216A>C	ENSP00000494772.1:p.Lys1406Gln
ENST00000646593.1:c.2163A>C	ENSP00000494341.1:n.2163A>C
ENST00000646693.1:c.4411A>C	ENSP00000495368.1:p.Lys1471Gln
ENST00000646746.1:c.2615A>C
ENST00000646889.1:n.818A>C
ENST00000647230.1:c.4216A>C	ENSP00000494676.1:p.Lys1406Gln
ENST00000647268.1:c.2569A>C	ENSP00000496176.1:p.Lys857Gln
ENST00000344626.8:c.4315A>C	ENSP00000343896.4:p.Lys1439Gln
ENST00000413806.7:c.4417A>C	ENSP00000414727.3:p.Lys1473Gln
ENST00000429416.7:c.4315A>C	ENSP00000395654.1:p.Lys1439Gln
ENST00000444061.7:c.4216A>C	ENSP00000392837.2:p.Lys1406Gln
ENST00000450717.7:c.4411A>C	ENSP00000397783.3:p.Lys1471Gln
ENST00000538456.3:n.629A>C
ENST00000541122.6:c.4225A>C	ENSP00000445036.2:p.Lys1409Gln
ENST00000585799.5:n.2753A>C
ENST00000589677.5:c.4225A>C	ENSP00000464778.1:p.Lys1409Gln
ENST00000590574.5:c.4216A>C	ENSP00000466963.1:p.Lys1406Gln
ENST00000591595.5:n.2288A>C
ENST00000592158.1:c.394A>C	ENSP00000467200.1:p.Lys132Gln
ENST00000592604.5:n.2138A>C
NM_001128844.1:c.4315A>C	NP_001122316.1:p.Lys1439Gln
NM_001128845.1:c.4225A>C	NP_001122317.1:p.Lys1409Gln
NM_001128846.1:c.4225A>C	NP_001122318.1:p.Lys1409Gln
NM_001128847.1:c.4216A>C	NP_001122319.1:p.Lys1406Gln
NM_001128848.1:c.4216A>C	NP_001122320.1:p.Lys1406Gln
NM_001128849.1:c.4411A>C	NP_001122321.1:p.Lys1471Gln
NM_003072.3:c.4315A>C	NP_003063.2:p.Lys1439Gln
XM_005260028.2:c.4324A>C	XP_005260085.1:p.Lys1442Gln
XM_005260030.2:c.4312A>C	XP_005260087.1:p.Lys1438Gln
XM_005260031.2:c.4315A>C	XP_005260088.1:p.Lys1439Gln
XM_005260032.2:c.4225A>C	XP_005260089.1:p.Lys1409Gln
XM_005260033.2:c.4225A>C	XP_005260090.1:p.Lys1409Gln
XM_005260034.2:c.4216A>C	XP_005260091.1:p.Lys1406Gln
XM_005260035.2:c.4216A>C	XP_005260092.1:p.Lys1406Gln
XM_006722845.2:c.4411A>C	XP_006722908.1:p.Lys1471Gln
XM_006722846.2:c.4411A>C	XP_006722909.1:p.Lys1471Gln
XM_006722847.2:c.4411A>C	XP_006722910.1:p.Lys1471Gln
XM_011528198.1:c.4411A>C	XP_011526500.1:p.Lys1471Gln
XM_024451658.1:c.4411A>C	XP_024307426.1:p.Lys1471Gln
XM_024451659.1:c.4411A>C	XP_024307427.1:p.Lys1471Gln
XM_024451660.1:c.4324A>C	XP_024307428.1:p.Lys1442Gln
XM_024451661.1:c.4312A>C	XP_024307429.1:p.Lys1438Gln
XM_024451662.1:c.4315A>C	XP_024307430.1:p.Lys1439Gln
XM_024451663.1:c.4312A>C	XP_024307431.1:p.Lys1438Gln
XM_024451664.1:c.4225A>C	XP_024307432.1:p.Lys1409Gln
XM_024451665.1:c.4225A>C	XP_024307433.1:p.Lys1409Gln
XM_024451666.1:c.4216A>C	XP_024307434.1:p.Lys1406Gln
XM_024451667.1:c.4216A>C	XP_024307435.1:p.Lys1406Gln
NM_001128844.3:c.4315A>C	NP_001122316.1:p.Lys1439Gln
NM_001128845.2:c.4225A>C	NP_001122317.1:p.Lys1409Gln
NM_001128846.2:c.4225A>C	NP_001122318.1:p.Lys1409Gln
NM_001128847.4:c.4216A>C	NP_001122319.1:p.Lys1406Gln
NM_001128848.2:c.4216A>C	NP_001122320.1:p.Lys1406Gln
NM_001128849.3:c.4411A>C	NP_001122321.1:p.Lys1471Gln
NM_001374457.1:c.4216A>C	NP_001361386.1:p.Lys1406Gln
NM_003072.5:c.4315A>C MANE Select	NP_003063.2:p.Lys1439Gln
NR_164683.1:n.4705A>C
NM_001387283.1:c.4411A>C MANE Plus Clinical	NP_001374212.1:p.Lys1471Gln