Canonical Allele Identifier: CA16043066
Gene: SMARCA4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372886
dbSNP Id: rs1057518049

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11041349C>T , CM000681.2:g.11041349C>T GRCh38
NC_000019.8:g.11013025C>T NCBI36
NC_000019.9:g.11152025C>T , CM000681.1:g.11152025C>T GRCh37
NG_011556.2:g.85428C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000344626.8:c.4213C>T ENSP00000343896.4:p.Arg1405Trp
ENST00000413806.7:n.4315C>T ENSP00000414727.3:p.Arg1439Trp
ENST00000429416.7:c.4213C>T ENSP00000395654.1:p.Arg1405Trp
ENST00000444061.7:c.4114C>T ENSP00000392837.2:p.Arg1372Trp
ENST00000450717.7:n.4309C>T ENSP00000397783.3:p.Arg1437Trp
ENST00000538456.3:n.527C>T
ENST00000541122.6:c.4123C>T ENSP00000445036.2:p.Arg1375Trp
ENST00000585799.5:n.2651C>T
ENST00000589677.5:c.4123C>T ENSP00000464778.1:p.Arg1375Trp
ENST00000590574.5:c.4114C>T ENSP00000466963.1:p.Arg1372Trp
ENST00000591595.5:n.2186C>T
ENST00000592158.1:n.292C>T ENSP00000467200.1:p.Arg98Trp
ENST00000592604.5:n.2036C>T
NM_001128844.1:c.4213C>T VV NP_001122316.1:p.Arg1405Trp
NM_001128845.1:n.4123C>T VV NP_001122317.1:p.Arg1375Trp
NM_001128846.1:n.4123C>T VV NP_001122318.1:p.Arg1375Trp
NM_001128847.1:n.4114C>T VV NP_001122319.1:p.Arg1372Trp
NM_001128848.1:n.4114C>T VV NP_001122320.1:p.Arg1372Trp
NM_001128849.1:c.4309C>T VV NP_001122321.1:p.Arg1437Trp
NM_003072.3:c.4213C>T VV NP_003063.2:p.Arg1405Trp
XM_005260028.2:c.4222C>T XP_005260085.1:p.Arg1408Trp
XM_005260030.2:c.4210C>T XP_005260087.1:p.Arg1404Trp
XM_005260031.2:c.4213C>T XP_005260088.1:p.Arg1405Trp
XM_005260032.2:c.4123C>T XP_005260089.1:p.Arg1375Trp
XM_005260033.2:c.4123C>T XP_005260090.1:p.Arg1375Trp
XM_005260034.2:c.4114C>T XP_005260091.1:p.Arg1372Trp
XM_005260035.2:c.4114C>T XP_005260092.1:p.Arg1372Trp
XM_006722845.2:c.4309C>T XP_006722908.1:p.Arg1437Trp
XM_006722846.2:c.4309C>T XP_006722909.1:p.Arg1437Trp
XM_006722847.2:c.4309C>T XP_006722910.1:p.Arg1437Trp
XM_011528198.1:c.4309C>T XP_011526500.1:p.Arg1437Trp