Canonical Allele Identifier: CA9204672

Gene: SMARCA4

Linked Data

• ClinVar Variation Id: 238460
• ClinVar RCV Id: RCV000568283 ; RCV000990150 ; RCV001123934 ; RCV001545563 ; RCV001808625 ; RCV003955320
• dbSNP Id: rs201879930
• ExAC: 19:11151991 G / A
• gnomAD v2: 19-11151991-G-A
• gnomAD v3: 19-11041315-G-A
• gnomAD v4: 19-11041315-G-A
• MyVariant Identifiers: chr19:g.11151991G>A (hg19) ; chr19:g.11041315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11041315G>A , CM000681.2:g.11041315G>A	GRCh38
NC_000019.9:g.11151991G>A , CM000681.1:g.11151991G>A	GRCh37
NC_000019.8:g.11012991G>A	NCBI36
NG_011556.2:g.85394G>A
NG_011556.3:g.85384G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711079.1:c.4275G>A	ENSP00000518564.1:p.Glu1425=
ENST00000704344.1:c.4179G>A	ENSP00000515855.1:p.Glu1393=
ENST00000646693.2:c.4275G>A MANE Plus Clinical	ENSP00000495368.1:p.Glu1425=
ENST00000344626.10:c.4179G>A MANE Select	ENSP00000343896.4:p.Glu1393=
ENST00000429416.8:c.4179G>A	ENSP00000395654.1:p.Glu1393=
ENST00000444061.8:c.4080G>A	ENSP00000392837.2:p.Glu1360=
ENST00000538456.4:c.346G>A
ENST00000586985.2:c.306G>A	ENSP00000467796.2:p.Glu102=
ENST00000590574.6:c.4080G>A	ENSP00000466963.1:p.Glu1360=
ENST00000592158.2:c.120G>A	ENSP00000467200.2:p.Glu40=
ENST00000592604.6:n.2420G>A
ENST00000642350.1:c.2673G>A	ENSP00000495355.1:p.Glu891=
ENST00000642508.1:c.1636G>A
ENST00000642628.1:c.4176G>A	ENSP00000496498.1:p.Glu1392=
ENST00000642726.1:c.4176G>A	ENSP00000494353.1:p.Glu1392=
ENST00000643208.1:c.2736G>A	ENSP00000496074.1:p.Glu912=
ENST00000643296.1:c.4089G>A	ENSP00000496635.1:p.Glu1363=
ENST00000643534.1:c.2464G>A
ENST00000643549.1:c.4185G>A	ENSP00000493975.1:p.Glu1395=
ENST00000643857.1:c.2543G>A
ENST00000643929.1:n.672G>A
ENST00000643995.1:c.3602G>A
ENST00000644065.1:c.2816G>A
ENST00000644327.1:c.2851G>A
ENST00000644737.1:c.4089G>A	ENSP00000495548.1:p.Glu1363=
ENST00000644963.1:c.2833G>A
ENST00000645061.1:c.2667G>A	ENSP00000493690.1:p.Glu889=
ENST00000645236.1:c.728G>A
ENST00000645460.1:c.4080G>A	ENSP00000494463.1:p.Glu1360=
ENST00000645648.1:c.2090G>A	ENSP00000493521.1:n.2090G>A
ENST00000646183.1:c.2522G>A
ENST00000646484.1:c.4080G>A	ENSP00000495536.1:p.Glu1360=
ENST00000646510.1:c.4080G>A	ENSP00000494772.1:p.Glu1360=
ENST00000646593.1:c.2027G>A	ENSP00000494341.1:n.2027G>A
ENST00000646693.1:c.4275G>A	ENSP00000495368.1:p.Glu1425=
ENST00000646746.1:c.2479G>A
ENST00000646889.1:n.682G>A
ENST00000647230.1:c.4080G>A	ENSP00000494676.1:p.Glu1360=
ENST00000647268.1:c.2433G>A	ENSP00000496176.1:p.Glu811=
ENST00000344626.8:c.4179G>A	ENSP00000343896.4:p.Glu1393=
ENST00000413806.7:c.4281G>A	ENSP00000414727.3:p.Glu1427=
ENST00000429416.7:c.4179G>A	ENSP00000395654.1:p.Glu1393=
ENST00000444061.7:c.4080G>A	ENSP00000392837.2:p.Glu1360=
ENST00000450717.7:c.4275G>A	ENSP00000397783.3:p.Glu1425=
ENST00000538456.3:n.493G>A
ENST00000541122.6:c.4089G>A	ENSP00000445036.2:p.Glu1363=
ENST00000585799.5:n.2617G>A
ENST00000589677.5:c.4089G>A	ENSP00000464778.1:p.Glu1363=
ENST00000590574.5:c.4080G>A	ENSP00000466963.1:p.Glu1360=
ENST00000591595.5:n.2152G>A
ENST00000592158.1:c.258G>A	ENSP00000467200.1:p.Glu86=
ENST00000592604.5:n.2002G>A
NM_001128844.1:c.4179G>A	NP_001122316.1:p.Glu1393=
NM_001128845.1:c.4089G>A	NP_001122317.1:p.Glu1363=
NM_001128846.1:c.4089G>A	NP_001122318.1:p.Glu1363=
NM_001128847.1:c.4080G>A	NP_001122319.1:p.Glu1360=
NM_001128848.1:c.4080G>A	NP_001122320.1:p.Glu1360=
NM_001128849.1:c.4275G>A	NP_001122321.1:p.Glu1425=
NM_003072.3:c.4179G>A	NP_003063.2:p.Glu1393=
XM_005260028.2:c.4188G>A	XP_005260085.1:p.Glu1396=
XM_005260030.2:c.4176G>A	XP_005260087.1:p.Glu1392=
XM_005260031.2:c.4179G>A	XP_005260088.1:p.Glu1393=
XM_005260032.2:c.4089G>A	XP_005260089.1:p.Glu1363=
XM_005260033.2:c.4089G>A	XP_005260090.1:p.Glu1363=
XM_005260034.2:c.4080G>A	XP_005260091.1:p.Glu1360=
XM_005260035.2:c.4080G>A	XP_005260092.1:p.Glu1360=
XM_006722845.2:c.4275G>A	XP_006722908.1:p.Glu1425=
XM_006722846.2:c.4275G>A	XP_006722909.1:p.Glu1425=
XM_006722847.2:c.4275G>A	XP_006722910.1:p.Glu1425=
XM_011528198.1:c.4275G>A	XP_011526500.1:p.Glu1425=
XM_024451658.1:c.4275G>A	XP_024307426.1:p.Glu1425=
XM_024451659.1:c.4275G>A	XP_024307427.1:p.Glu1425=
XM_024451660.1:c.4188G>A	XP_024307428.1:p.Glu1396=
XM_024451661.1:c.4176G>A	XP_024307429.1:p.Glu1392=
XM_024451662.1:c.4179G>A	XP_024307430.1:p.Glu1393=
XM_024451663.1:c.4176G>A	XP_024307431.1:p.Glu1392=
XM_024451664.1:c.4089G>A	XP_024307432.1:p.Glu1363=
XM_024451665.1:c.4089G>A	XP_024307433.1:p.Glu1363=
XM_024451666.1:c.4080G>A	XP_024307434.1:p.Glu1360=
XM_024451667.1:c.4080G>A	XP_024307435.1:p.Glu1360=
NM_001128844.3:c.4179G>A	NP_001122316.1:p.Glu1393=
NM_001128845.2:c.4089G>A	NP_001122317.1:p.Glu1363=
NM_001128846.2:c.4089G>A	NP_001122318.1:p.Glu1363=
NM_001128847.4:c.4080G>A	NP_001122319.1:p.Glu1360=
NM_001128848.2:c.4080G>A	NP_001122320.1:p.Glu1360=
NM_001128849.3:c.4275G>A	NP_001122321.1:p.Glu1425=
NM_001374457.1:c.4080G>A	NP_001361386.1:p.Glu1360=
NM_003072.5:c.4179G>A MANE Select	NP_003063.2:p.Glu1393=
NR_164683.1:n.4569G>A
NM_001387283.1:c.4275G>A MANE Plus Clinical	NP_001374212.1:p.Glu1425=