Canonical Allele Identifier: CA2582466912

Gene: SMARCA4

Linked Data

• dbSNP Id: rs2146809722
• gnomAD v4: 19-11041254-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11041254T>C , CM000681.2:g.11041254T>C	GRCh38
NC_000019.9:g.11151930T>C , CM000681.1:g.11151930T>C	GRCh37
NC_000019.8:g.11012930T>C	NCBI36
NG_011556.2:g.85333T>C
NG_011556.3:g.85323T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000711079.1:c.4267-53T>C	ENSP00000518564.1:n.4267-53T>C
ENST00000704344.1:c.4171-53T>C	ENSP00000515855.1:n.4171-53T>C
ENST00000646693.2:c.4267-53T>C MANE Plus Clinical	ENSP00000495368.1:n.4267-53T>C
ENST00000344626.10:c.4171-53T>C MANE Select	ENSP00000343896.4:n.4171-53T>C
ENST00000429416.8:c.4171-53T>C	ENSP00000395654.1:n.4171-53T>C
ENST00000444061.8:c.4072-53T>C	ENSP00000392837.2:n.4072-53T>C
ENST00000538456.4:c.329-44T>C
ENST00000586985.2:c.298-53T>C	ENSP00000467796.2:n.298-53T>C
ENST00000590574.6:c.4072-53T>C	ENSP00000466963.1:n.4072-53T>C
ENST00000592158.2:c.112-53T>C	ENSP00000467200.2:n.112-53T>C
ENST00000592604.6:n.2403-44T>C
ENST00000642350.1:c.2656-44T>C	ENSP00000495355.1:n.2656-44T>C
ENST00000642508.1:c.1628-53T>C
ENST00000642628.1:c.4168-53T>C	ENSP00000496498.1:n.4168-53T>C
ENST00000642726.1:c.4168-53T>C	ENSP00000494353.1:n.4168-53T>C
ENST00000643208.1:c.2728-53T>C	ENSP00000496074.1:n.2728-53T>C
ENST00000643296.1:c.4072-44T>C	ENSP00000496635.1:n.4072-44T>C
ENST00000643534.1:c.2456-53T>C
ENST00000643549.1:c.4168-44T>C	ENSP00000493975.1:n.4168-44T>C
ENST00000643857.1:c.2526-44T>C
ENST00000643929.1:n.611T>C
ENST00000643995.1:c.3585-44T>C
ENST00000644065.1:c.2799-44T>C
ENST00000644327.1:c.2843-53T>C
ENST00000644737.1:c.4072-44T>C	ENSP00000495548.1:n.4072-44T>C
ENST00000644963.1:c.2816-44T>C
ENST00000645061.1:c.2659-53T>C	ENSP00000493690.1:n.2659-53T>C
ENST00000645236.1:c.720-53T>C
ENST00000645460.1:c.4072-53T>C	ENSP00000494463.1:n.4072-53T>C
ENST00000645648.1:c.2082-53T>C	ENSP00000493521.1:n.2082-53T>C
ENST00000646183.1:c.2514-53T>C
ENST00000646484.1:c.4072-53T>C	ENSP00000495536.1:n.4072-53T>C
ENST00000646510.1:c.4072-53T>C	ENSP00000494772.1:n.4072-53T>C
ENST00000646593.1:c.2019-53T>C	ENSP00000494341.1:n.2019-53T>C
ENST00000646693.1:c.4267-53T>C	ENSP00000495368.1:n.4267-53T>C
ENST00000646746.1:c.2471-53T>C
ENST00000646889.1:n.621T>C
ENST00000647230.1:c.4072-53T>C	ENSP00000494676.1:n.4072-53T>C
ENST00000647268.1:c.2425-53T>C	ENSP00000496176.1:n.2425-53T>C
ENST00000344626.8:c.4171-53T>C	ENSP00000343896.4:n.4171-53T>C
ENST00000413806.7:c.4264-44T>C	ENSP00000414727.3:n.4264-44T>C
ENST00000429416.7:c.4171-53T>C	ENSP00000395654.1:n.4171-53T>C
ENST00000444061.7:c.4072-53T>C	ENSP00000392837.2:n.4072-53T>C
ENST00000450717.7:c.4267-53T>C	ENSP00000397783.3:n.4267-53T>C
ENST00000538456.3:n.476-44T>C
ENST00000541122.6:c.4072-44T>C	ENSP00000445036.2:n.4072-44T>C
ENST00000585799.5:n.2600-44T>C
ENST00000589677.5:c.4072-44T>C	ENSP00000464778.1:n.4072-44T>C
ENST00000590574.5:c.4072-53T>C	ENSP00000466963.1:n.4072-53T>C
ENST00000591595.5:n.2144-53T>C
ENST00000592158.1:c.241-44T>C	ENSP00000467200.1:n.241-44T>C
ENST00000592604.5:n.1985-44T>C
NM_001128844.1:c.4171-53T>C	NP_001122316.1:n.4171-53T>C
NM_001128845.1:c.4072-44T>C	NP_001122317.1:n.4072-44T>C
NM_001128846.1:c.4072-44T>C	NP_001122318.1:n.4072-44T>C
NM_001128847.1:c.4072-53T>C	NP_001122319.1:n.4072-53T>C
NM_001128848.1:c.4072-53T>C	NP_001122320.1:n.4072-53T>C
NM_001128849.1:c.4267-53T>C	NP_001122321.1:n.4267-53T>C
NM_003072.3:c.4171-53T>C	NP_003063.2:n.4171-53T>C
XM_005260028.2:c.4171-44T>C	XP_005260085.1:n.4171-44T>C
XM_005260030.2:c.4168-53T>C	XP_005260087.1:n.4168-53T>C
XM_005260031.2:c.4171-53T>C	XP_005260088.1:n.4171-53T>C
XM_005260032.2:c.4072-44T>C	XP_005260089.1:n.4072-44T>C
XM_005260033.2:c.4072-44T>C	XP_005260090.1:n.4072-44T>C
XM_005260034.2:c.4072-53T>C	XP_005260091.1:n.4072-53T>C
XM_005260035.2:c.4072-53T>C	XP_005260092.1:n.4072-53T>C
XM_006722845.2:c.4267-53T>C	XP_006722908.1:n.4267-53T>C
XM_006722846.2:c.4267-53T>C	XP_006722909.1:n.4267-53T>C
XM_006722847.2:c.4267-53T>C	XP_006722910.1:n.4267-53T>C
XM_011528198.1:c.4267-53T>C	XP_011526500.1:n.4267-53T>C
XM_024451658.1:c.4267-53T>C	XP_024307426.1:n.4267-53T>C
XM_024451659.1:c.4267-53T>C	XP_024307427.1:n.4267-53T>C
XM_024451660.1:c.4171-44T>C	XP_024307428.1:n.4171-44T>C
XM_024451661.1:c.4168-53T>C	XP_024307429.1:n.4168-53T>C
XM_024451662.1:c.4171-53T>C	XP_024307430.1:n.4171-53T>C
XM_024451663.1:c.4168-53T>C	XP_024307431.1:n.4168-53T>C
XM_024451664.1:c.4072-44T>C	XP_024307432.1:n.4072-44T>C
XM_024451665.1:c.4072-44T>C	XP_024307433.1:n.4072-44T>C
XM_024451666.1:c.4072-53T>C	XP_024307434.1:n.4072-53T>C
XM_024451667.1:c.4072-53T>C	XP_024307435.1:n.4072-53T>C
NM_001128844.3:c.4171-53T>C	NP_001122316.1:n.4171-53T>C
NM_001128845.2:c.4072-44T>C	NP_001122317.1:n.4072-44T>C
NM_001128846.2:c.4072-44T>C	NP_001122318.1:n.4072-44T>C
NM_001128847.4:c.4072-53T>C	NP_001122319.1:n.4072-53T>C
NM_001128848.2:c.4072-53T>C	NP_001122320.1:n.4072-53T>C
NM_001128849.3:c.4267-53T>C	NP_001122321.1:n.4267-53T>C
NM_001374457.1:c.4072-53T>C	NP_001361386.1:n.4072-53T>C
NM_003072.5:c.4171-53T>C MANE Select	NP_003063.2:n.4171-53T>C
NR_164683.1:n.4561-53T>C
NM_001387283.1:c.4267-53T>C MANE Plus Clinical	NP_001374212.1:n.4267-53T>C