Canonical Allele Identifier: CA151040

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 126320
• ClinVar RCV Id: RCV000114263 ; RCV001682800 ; RCV001554099 ; RCV002312002
• dbSNP Id: rs3734441
• ExAC: 6:157405930 G / A
• gnomAD v2: 6-157405930-G-A
• gnomAD v3: 6-157084796-G-A
• gnomAD v4: 6-157084796-G-A
• MyVariant Identifiers: chr6:g.157405930G>A (hg19) ; chr6:g.157084796G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157084796G>A , CM000668.2:g.157084796G>A	GRCh38
NC_000006.11:g.157405930G>A , CM000668.1:g.157405930G>A	GRCh37
NC_000006.10:g.157447622G>A	NCBI36
NG_032093.1:g.311867G>A
NG_032093.2:g.311867G>A
NG_066624.1:g.313771G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.2382G>A	ENSP00000055163.8:p.Ala794=
ENST00000414678.8:c.2382G>A	ENSP00000412835.3:p.Ala794=
ENST00000637015.2:c.2382G>A	ENSP00000489729.2:p.Ala794=
ENST00000319584.11:c.396G>A	ENSP00000313006.7:p.Ala132=
ENST00000346085.10:c.2421G>A	ENSP00000344546.5:p.Ala807=
ENST00000350026.10:c.2133G>A	ENSP00000055163.7:p.Ala711=
ENST00000414678.7:c.630G>A	ENSP00000412835.2:p.Ala210=
ENST00000452544.2:n.283G>A
ENST00000493658.2:n.31G>A
ENST00000635849.1:c.-118G>A	ENSP00000490948.1:n.-118G>A
ENST00000636930.2:c.2382G>A MANE Select	ENSP00000490491.2:p.Ala794=
ENST00000637003.1:c.-118G>A	ENSP00000489666.1:n.-118G>A
ENST00000637810.1:c.-118G>A	ENSP00000489636.1:n.-118G>A
ENST00000637904.1:c.-118G>A	ENSP00000490550.1:n.-118G>A
ENST00000647938.1:c.2172G>A	ENSP00000498155.1:p.Ala724=
ENST00000674190.1:n.1131G>A
ENST00000319584.10:c.399G>A	ENSP00000313006.6:p.Ala133=
ENST00000346085.9:c.2172G>A	ENSP00000344546.4:p.Ala724=
ENST00000350026.9:c.2133G>A	ENSP00000055163.7:p.Ala711=
ENST00000414678.6:c.630G>A	ENSP00000412835.2:p.Ala210=
ENST00000452544.1:n.241G>A
ENST00000493658.1:n.31G>A
NM_017519.2:c.2133G>A	NP_059989.2:p.Ala711=
NM_020732.3:c.2172G>A	NP_065783.3:p.Ala724=
XM_005267069.3:c.2133G>A	XP_005267126.2:p.Ala711=
XM_011535984.1:c.1083G>A	XP_011534286.1:p.Ala361=
XM_011535985.1:c.1083G>A	XP_011534287.1:p.Ala361=
XM_011535986.1:c.663G>A	XP_011534288.1:p.Ala221=
XM_011535987.1:c.282G>A	XP_011534289.1:p.Ala94=
NM_001346813.1:c.2133G>A	NP_001333742.1:p.Ala711=
NM_001363725.1:c.-118G>A	NP_001350654.1:n.-118G>A
XM_011535984.2:c.2214G>A	XP_011534286.2:p.Ala738=
XM_017011103.2:c.2214G>A	XP_016866592.1:p.Ala738=
XM_017011104.1:c.2214G>A	XP_016866593.1:p.Ala738=
XM_017011105.2:c.2214G>A	XP_016866594.1:p.Ala738=
XM_017011106.2:c.2214G>A	XP_016866595.1:p.Ala738=
XM_017011107.2:c.2214G>A	XP_016866596.1:p.Ala738=
XR_002956289.1:n.2297G>A
NM_001363725.2:c.-118G>A	NP_001350654.1:n.-118G>A
NM_001371656.1:c.2421G>A	NP_001358585.1:p.Ala807=
NM_001374820.1:c.2421G>A	NP_001361749.1:p.Ala807=
NM_001374828.1:c.2382G>A MANE Select	NP_001361757.1:p.Ala794=
NM_017519.3:c.2382G>A	NP_059989.3:p.Ala794=