Canonical Allele Identifier: CA366234132
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2657065
ClinVar RCV Id: RCV003429010

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157189707G>A , CM000668.2:g.157189707G>A GRCh38
NC_000006.11:g.157510841G>A , CM000668.1:g.157510841G>A GRCh37
NC_000006.10:g.157552533G>A NCBI36
NG_032093.1:g.416778G>A
NG_032093.2:g.416778G>A
NG_066624.1:g.418682G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.3826G>A ENSP00000055163.8:p.Val1276Ile
ENST00000414678.8:c.3895G>A ENSP00000412835.3:p.Val1299Ile
ENST00000637015.2:c.4114G>A ENSP00000489729.2:p.Val1372Ile
ENST00000346085.10:c.3865G>A ENSP00000344546.5:p.Val1289Ile
ENST00000350026.10:c.3577G>A ENSP00000055163.7:p.Val1193Ile
ENST00000414678.7:c.2143G>A ENSP00000412835.2:p.Val715Ile
ENST00000635849.1:c.1306G>A ENSP00000490948.1:p.Val436Ile
ENST00000635957.1:c.940G>A ENSP00000490385.1:p.Val314Ile
ENST00000636930.2:c.3985G>A MANE Select ENSP00000490491.2:p.Val1329Ile
ENST00000636940.1:n.1982G>A
ENST00000637015.1:c.1353G>A
ENST00000637568.1:c.1267G>A
ENST00000637741.1:n.651G>A
ENST00000637810.1:c.1327G>A ENSP00000489636.1:p.Val443Ile
ENST00000637904.1:c.1486G>A ENSP00000490550.1:p.Val496Ile
ENST00000647938.1:c.3616G>A ENSP00000498155.1:p.Val1206Ile
ENST00000346085.9:c.3616G>A ENSP00000344546.4:p.Val1206Ile
ENST00000350026.9:c.3577G>A ENSP00000055163.7:p.Val1193Ile
ENST00000414678.6:c.2143G>A ENSP00000412835.2:p.Val715Ile
NM_017519.2:c.3577G>A NP_059989.2:p.Val1193Ile
NM_020732.3:c.3616G>A NP_065783.3:p.Val1206Ile
XM_005267069.3:c.3736G>A XP_005267126.2:p.Val1246Ile
XM_011535984.1:c.2815G>A XP_011534286.1:p.Val939Ile
XM_011535985.1:c.2635G>A XP_011534287.1:p.Val879Ile
XM_011535986.1:c.2395G>A XP_011534288.1:p.Val799Ile
XM_011535987.1:c.2014G>A XP_011534289.1:p.Val672Ile
XM_011535988.1:c.877G>A XP_011534290.1:p.Val293Ile
NM_001346813.1:c.3736G>A NP_001333742.1:p.Val1246Ile
NM_001363725.1:c.1486G>A NP_001350654.1:p.Val496Ile
XM_011535984.2:c.3946G>A XP_011534286.2:p.Val1316Ile
XM_011535988.3:c.877G>A XP_011534290.1:p.Val293Ile
XM_017011103.2:c.3847G>A XP_016866592.1:p.Val1283Ile
XM_017011104.1:c.3817G>A XP_016866593.1:p.Val1273Ile
XM_017011105.2:c.3787G>A XP_016866594.1:p.Val1263Ile
XM_017011106.2:c.3658G>A XP_016866595.1:p.Val1220Ile
XM_017011107.2:c.3637G>A XP_016866596.1:p.Val1213Ile
XR_002956289.1:n.4029G>A
NM_001363725.2:c.1486G>A NP_001350654.1:p.Val496Ile
NM_001371656.1:c.3865G>A NP_001358585.1:p.Val1289Ile
NM_001374820.1:c.3865G>A NP_001361749.1:p.Val1289Ile
NM_001374828.1:c.3985G>A MANE Select NP_001361757.1:p.Val1329Ile
NM_017519.3:c.3826G>A NP_059989.3:p.Val1276Ile