Canonical Allele Identifier: CA14635573
Gene: SMARCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1602723
ClinVar RCV Id: RCV002141547
dbSNP Id: rs1122608

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11052925G>T , CM000681.2:g.11052925G>T GRCh38
NC_000019.9:g.11163601G>T , CM000681.1:g.11163601G>T GRCh37
NC_000019.8:g.11024601G>T NCBI36
NG_011556.2:g.97004G>T
NG_011556.3:g.96994G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000711079.1:c.4521-5330G>T ENSP00000518564.1:n.4521-5330G>T
ENST00000704344.1:c.4425-5330G>T ENSP00000515855.1:n.4425-5330G>T
ENST00000646693.2:c.4521-5330G>T MANE Plus Clinical ENSP00000495368.1:n.4521-5330G>T
ENST00000344626.10:c.4425-5330G>T MANE Select ENSP00000343896.4:n.4425-5330G>T
ENST00000429416.8:c.4425-5330G>T ENSP00000395654.1:n.4425-5330G>T
ENST00000444061.8:c.4326-5333G>T ENSP00000392837.2:n.4326-5333G>T
ENST00000538456.4:c.592-5330G>T
ENST00000586985.2:c.552-5330G>T ENSP00000467796.2:n.552-5330G>T
ENST00000590574.6:c.4326-5330G>T ENSP00000466963.1:n.4326-5330G>T
ENST00000592158.2:c.366-5333G>T ENSP00000467200.2:n.366-5333G>T
ENST00000592604.6:n.2666-5330G>T
ENST00000642350.1:c.2919-5330G>T ENSP00000495355.1:n.2919-5330G>T
ENST00000642508.1:c.1882-5333G>T
ENST00000642628.1:c.4422-5330G>T ENSP00000496498.1:n.4422-5330G>T
ENST00000642726.1:c.4422-5330G>T ENSP00000494353.1:n.4422-5330G>T
ENST00000643208.1:c.2982-5333G>T ENSP00000496074.1:n.2982-5333G>T
ENST00000643296.1:c.4335-5330G>T ENSP00000496635.1:n.4335-5330G>T
ENST00000643534.1:c.2710-5333G>T
ENST00000643549.1:c.4431-5330G>T ENSP00000493975.1:n.4431-5330G>T
ENST00000643857.1:c.2789-5330G>T
ENST00000643929.1:n.918-5333G>T
ENST00000643995.1:c.3848-5330G>T
ENST00000644065.1:c.3062-5333G>T
ENST00000644327.1:c.3097-3292G>T
ENST00000644737.1:c.4335-5330G>T ENSP00000495548.1:n.4335-5330G>T
ENST00000644963.1:c.3079-5333G>T
ENST00000645061.1:c.2913-3292G>T ENSP00000493690.1:n.2913-3292G>T
ENST00000645236.1:c.974-5333G>T
ENST00000645387.1:c.323+5130G>T ENSP00000496135.1:n.323+5130G>T
ENST00000645460.1:c.4326-5333G>T ENSP00000494463.1:n.4326-5333G>T
ENST00000645648.1:c.2336-5330G>T ENSP00000493521.1:n.2336-5330G>T
ENST00000646183.1:c.2768-5333G>T
ENST00000646484.1:c.4326-5330G>T ENSP00000495536.1:n.4326-5330G>T
ENST00000646510.1:c.4326-5330G>T ENSP00000494772.1:n.4326-5330G>T
ENST00000646593.1:c.2273-5333G>T ENSP00000494341.1:n.2273-5333G>T
ENST00000646693.1:c.4521-5330G>T ENSP00000495368.1:n.4521-5330G>T
ENST00000646746.1:c.2725-5330G>T
ENST00000646889.1:n.928-5330G>T
ENST00000647230.1:c.4326-5330G>T ENSP00000494676.1:n.4326-5330G>T
ENST00000647268.1:c.2679-5330G>T ENSP00000496176.1:n.2679-5330G>T
ENST00000344626.8:c.4425-5330G>T ENSP00000343896.4:n.4425-5330G>T
ENST00000413806.7:c.4527-5330G>T ENSP00000414727.3:n.4527-5330G>T
ENST00000429416.7:c.4425-5330G>T ENSP00000395654.1:n.4425-5330G>T
ENST00000444061.7:c.4326-5333G>T ENSP00000392837.2:n.4326-5333G>T
ENST00000450717.7:c.4521-5330G>T ENSP00000397783.3:n.4521-5330G>T
ENST00000541122.6:c.4335-5330G>T ENSP00000445036.2:n.4335-5330G>T
ENST00000585799.5:n.2863-5330G>T
ENST00000589677.5:c.4335-5333G>T ENSP00000464778.1:n.4335-5333G>T
ENST00000590574.5:c.4326-5330G>T ENSP00000466963.1:n.4326-5330G>T
ENST00000591595.5:n.2398-5330G>T
ENST00000592604.5:n.2248-5330G>T
NM_001128844.1:c.4425-5330G>T NP_001122316.1:n.4425-5330G>T
NM_001128845.1:c.4335-5330G>T NP_001122317.1:n.4335-5330G>T
NM_001128846.1:c.4335-5333G>T NP_001122318.1:n.4335-5333G>T
NM_001128847.1:c.4326-5330G>T NP_001122319.1:n.4326-5330G>T
NM_001128848.1:c.4326-5333G>T NP_001122320.1:n.4326-5333G>T
NM_001128849.1:c.4521-5330G>T NP_001122321.1:n.4521-5330G>T
NM_003072.3:c.4425-5330G>T NP_003063.2:n.4425-5330G>T
XM_005260028.2:c.4434-5330G>T XP_005260085.1:n.4434-5330G>T
XM_005260030.2:c.4422-5330G>T XP_005260087.1:n.4422-5330G>T
XM_005260031.2:c.4425-5333G>T XP_005260088.1:n.4425-5333G>T
XM_005260032.2:c.4335-5330G>T XP_005260089.1:n.4335-5330G>T
XM_005260033.2:c.4335-5333G>T XP_005260090.1:n.4335-5333G>T
XM_005260034.2:c.4326-5330G>T XP_005260091.1:n.4326-5330G>T
XM_005260035.2:c.4326-5333G>T XP_005260092.1:n.4326-5333G>T
XM_006722845.2:c.4521-5330G>T XP_006722908.1:n.4521-5330G>T
XM_006722846.2:c.4521-5330G>T XP_006722909.1:n.4521-5330G>T
XM_006722847.2:c.4521-5333G>T XP_006722910.1:n.4521-5333G>T
XM_011528198.1:c.4521-5330G>T XP_011526500.1:n.4521-5330G>T
XM_024451658.1:c.4521-5330G>T XP_024307426.1:n.4521-5330G>T
XM_024451659.1:c.4521-5333G>T XP_024307427.1:n.4521-5333G>T
XM_024451660.1:c.4434-5330G>T XP_024307428.1:n.4434-5330G>T
XM_024451661.1:c.4422-5330G>T XP_024307429.1:n.4422-5330G>T
XM_024451662.1:c.4425-5333G>T XP_024307430.1:n.4425-5333G>T
XM_024451663.1:c.4422-5333G>T XP_024307431.1:n.4422-5333G>T
XM_024451664.1:c.4335-5330G>T XP_024307432.1:n.4335-5330G>T
XM_024451665.1:c.4335-5333G>T XP_024307433.1:n.4335-5333G>T
XM_024451666.1:c.4326-5330G>T XP_024307434.1:n.4326-5330G>T
XM_024451667.1:c.4326-5333G>T XP_024307435.1:n.4326-5333G>T
NM_001128844.3:c.4425-5330G>T NP_001122316.1:n.4425-5330G>T
NM_001128845.2:c.4335-5330G>T NP_001122317.1:n.4335-5330G>T
NM_001128846.2:c.4335-5333G>T NP_001122318.1:n.4335-5333G>T
NM_001128847.4:c.4326-5330G>T NP_001122319.1:n.4326-5330G>T
NM_001128848.2:c.4326-5333G>T NP_001122320.1:n.4326-5333G>T
NM_001128849.3:c.4521-5330G>T NP_001122321.1:n.4521-5330G>T
NM_001374457.1:c.4326-5330G>T NP_001361386.1:n.4326-5330G>T
NM_003072.5:c.4425-5330G>T MANE Select NP_003063.2:n.4425-5330G>T
NR_164683.1:n.4815-5333G>T
NM_001387283.1:c.4521-5330G>T MANE Plus Clinical NP_001374212.1:n.4521-5330G>T