Canonical Allele Identifier: CA404054348

Gene: SMARCA4

Linked Data

• ClinVar Variation Id: 480556
• ClinVar RCV Id: RCV000572466 ; RCV000646884 ; RCV001809558
• dbSNP Id: rs765325777
• gnomAD v4: 19-10984277-G-T
• MyVariant Identifiers: chr19:g.11094953G>T (hg19) ; chr19:g.10984277G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10984277G>T , CM000681.2:g.10984277G>T	GRCh38
NC_000019.9:g.11094953G>T , CM000681.1:g.11094953G>T	GRCh37
NC_000019.8:g.10955953G>T	NCBI36
NG_011556.2:g.28356G>T
NG_011556.3:g.28346G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711079.1:c.126G>T	ENSP00000518564.1:p.Met42Ile
ENST00000704344.1:c.126G>T	ENSP00000515855.1:p.Met42Ile
ENST00000704345.1:c.126G>T	ENSP00000515856.1:p.Met42Ile
ENST00000646693.2:c.126G>T MANE Plus Clinical	ENSP00000495368.1:p.Met42Ile
ENST00000344626.10:c.126G>T MANE Select	ENSP00000343896.4:p.Met42Ile
ENST00000429416.8:c.126G>T	ENSP00000395654.1:p.Met42Ile
ENST00000444061.8:c.126G>T	ENSP00000392837.2:p.Met42Ile
ENST00000590574.6:c.126G>T	ENSP00000466963.1:p.Met42Ile
ENST00000642628.1:c.126G>T	ENSP00000496498.1:p.Met42Ile
ENST00000642726.1:c.126G>T	ENSP00000494353.1:p.Met42Ile
ENST00000643296.1:c.126G>T	ENSP00000496635.1:p.Met42Ile
ENST00000643549.1:c.126G>T	ENSP00000493975.1:p.Met42Ile
ENST00000644737.1:c.126G>T	ENSP00000495548.1:p.Met42Ile
ENST00000644760.1:c.126G>T	ENSP00000496682.1:p.Met42Ile
ENST00000645460.1:c.126G>T	ENSP00000494463.1:p.Met42Ile
ENST00000646484.1:c.126G>T	ENSP00000495536.1:p.Met42Ile
ENST00000646510.1:c.126G>T	ENSP00000494772.1:p.Met42Ile
ENST00000646693.1:c.126G>T	ENSP00000495368.1:p.Met42Ile
ENST00000647230.1:c.126G>T	ENSP00000494676.1:p.Met42Ile
ENST00000344626.8:c.126G>T	ENSP00000343896.4:p.Met42Ile
ENST00000413806.7:c.126G>T	ENSP00000414727.3:p.Met42Ile
ENST00000429416.7:c.126G>T	ENSP00000395654.1:p.Met42Ile
ENST00000444061.7:c.126G>T	ENSP00000392837.2:p.Met42Ile
ENST00000450717.7:c.126G>T	ENSP00000397783.3:p.Met42Ile
ENST00000541122.6:c.126G>T	ENSP00000445036.2:p.Met42Ile
ENST00000589677.5:c.126G>T	ENSP00000464778.1:p.Met42Ile
ENST00000590574.5:c.126G>T	ENSP00000466963.1:p.Met42Ile
NM_001128844.1:c.126G>T	NP_001122316.1:p.Met42Ile
NM_001128845.1:c.126G>T	NP_001122317.1:p.Met42Ile
NM_001128846.1:c.126G>T	NP_001122318.1:p.Met42Ile
NM_001128847.1:c.126G>T	NP_001122319.1:p.Met42Ile
NM_001128848.1:c.126G>T	NP_001122320.1:p.Met42Ile
NM_001128849.1:c.126G>T	NP_001122321.1:p.Met42Ile
NM_003072.3:c.126G>T	NP_003063.2:p.Met42Ile
XM_005260028.2:c.126G>T	XP_005260085.1:p.Met42Ile
XM_005260030.2:c.126G>T	XP_005260087.1:p.Met42Ile
XM_005260031.2:c.126G>T	XP_005260088.1:p.Met42Ile
XM_005260032.2:c.126G>T	XP_005260089.1:p.Met42Ile
XM_005260033.2:c.126G>T	XP_005260090.1:p.Met42Ile
XM_005260034.2:c.126G>T	XP_005260091.1:p.Met42Ile
XM_005260035.2:c.126G>T	XP_005260092.1:p.Met42Ile
XM_006722845.2:c.126G>T	XP_006722908.1:p.Met42Ile
XM_006722846.2:c.126G>T	XP_006722909.1:p.Met42Ile
XM_006722847.2:c.126G>T	XP_006722910.1:p.Met42Ile
XM_011528198.1:c.126G>T	XP_011526500.1:p.Met42Ile
XM_024451658.1:c.126G>T	XP_024307426.1:p.Met42Ile
XM_024451659.1:c.126G>T	XP_024307427.1:p.Met42Ile
XM_024451660.1:c.126G>T	XP_024307428.1:p.Met42Ile
XM_024451661.1:c.126G>T	XP_024307429.1:p.Met42Ile
XM_024451662.1:c.126G>T	XP_024307430.1:p.Met42Ile
XM_024451663.1:c.126G>T	XP_024307431.1:p.Met42Ile
XM_024451664.1:c.126G>T	XP_024307432.1:p.Met42Ile
XM_024451665.1:c.126G>T	XP_024307433.1:p.Met42Ile
XM_024451666.1:c.126G>T	XP_024307434.1:p.Met42Ile
XM_024451667.1:c.126G>T	XP_024307435.1:p.Met42Ile
NM_001128844.3:c.126G>T	NP_001122316.1:p.Met42Ile
NM_001128845.2:c.126G>T	NP_001122317.1:p.Met42Ile
NM_001128846.2:c.126G>T	NP_001122318.1:p.Met42Ile
NM_001128847.4:c.126G>T	NP_001122319.1:p.Met42Ile
NM_001128848.2:c.126G>T	NP_001122320.1:p.Met42Ile
NM_001128849.3:c.126G>T	NP_001122321.1:p.Met42Ile
NM_001374457.1:c.126G>T	NP_001361386.1:p.Met42Ile
NM_003072.5:c.126G>T MANE Select	NP_003063.2:p.Met42Ile
NR_164683.1:n.302G>T
NM_001387283.1:c.126G>T MANE Plus Clinical	NP_001374212.1:p.Met42Ile