Canonical Allele Identifier: CA4067046

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 2636596
• ClinVar RCV Id: RCV003394331
• dbSNP Id: rs764402992
• ExAC: 6:157406007 G / A
• gnomAD v2: 6-157406007-G-A
• gnomAD v4: 6-157084873-G-A
• MyVariant Identifiers: chr6:g.157406007G>A (hg19) ; chr6:g.157084873G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157084873G>A , CM000668.2:g.157084873G>A	GRCh38
NC_000006.11:g.157406007G>A , CM000668.1:g.157406007G>A	GRCh37
NC_000006.10:g.157447699G>A	NCBI36
NG_032093.1:g.311944G>A
NG_032093.2:g.311944G>A
NG_066624.1:g.313848G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000350026.11:c.2459G>A	ENSP00000055163.8:p.Arg820Gln
ENST00000414678.8:c.2459G>A	ENSP00000412835.3:p.Arg820Gln
ENST00000637015.2:c.2459G>A	ENSP00000489729.2:p.Arg820Gln
ENST00000319584.11:c.473G>A	ENSP00000313006.7:p.Arg158Gln
ENST00000346085.10:c.2498G>A	ENSP00000344546.5:p.Arg833Gln
ENST00000350026.10:c.2210G>A	ENSP00000055163.7:p.Arg737Gln
ENST00000414678.7:c.707G>A	ENSP00000412835.2:p.Arg236Gln
ENST00000452544.2:n.360G>A
ENST00000493658.2:n.108G>A
ENST00000635849.1:c.-41G>A	ENSP00000490948.1:n.-41G>A
ENST00000636930.2:c.2459G>A MANE Select	ENSP00000490491.2:p.Arg820Gln
ENST00000637003.1:c.-41G>A	ENSP00000489666.1:n.-41G>A
ENST00000637810.1:c.-41G>A	ENSP00000489636.1:n.-41G>A
ENST00000637904.1:c.-41G>A	ENSP00000490550.1:n.-41G>A
ENST00000647938.1:c.2249G>A	ENSP00000498155.1:p.Arg750Gln
ENST00000674190.1:n.1208G>A
ENST00000319584.10:c.476G>A	ENSP00000313006.6:p.Arg159Gln
ENST00000346085.9:c.2249G>A	ENSP00000344546.4:p.Arg750Gln
ENST00000350026.9:c.2210G>A	ENSP00000055163.7:p.Arg737Gln
ENST00000414678.6:c.707G>A	ENSP00000412835.2:p.Arg236Gln
ENST00000452544.1:n.318G>A
ENST00000493658.1:n.108G>A
NM_017519.2:c.2210G>A	NP_059989.2:p.Arg737Gln
NM_020732.3:c.2249G>A	NP_065783.3:p.Arg750Gln
XM_005267069.3:c.2210G>A	XP_005267126.2:p.Arg737Gln
XM_011535984.1:c.1160G>A	XP_011534286.1:p.Arg387Gln
XM_011535985.1:c.1160G>A	XP_011534287.1:p.Arg387Gln
XM_011535986.1:c.740G>A	XP_011534288.1:p.Arg247Gln
XM_011535987.1:c.359G>A	XP_011534289.1:p.Arg120Gln
NM_001346813.1:c.2210G>A	NP_001333742.1:p.Arg737Gln
NM_001363725.1:c.-41G>A	NP_001350654.1:n.-41G>A
XM_011535984.2:c.2291G>A	XP_011534286.2:p.Arg764Gln
XM_017011103.2:c.2291G>A	XP_016866592.1:p.Arg764Gln
XM_017011104.1:c.2291G>A	XP_016866593.1:p.Arg764Gln
XM_017011105.2:c.2291G>A	XP_016866594.1:p.Arg764Gln
XM_017011106.2:c.2291G>A	XP_016866595.1:p.Arg764Gln
XM_017011107.2:c.2291G>A	XP_016866596.1:p.Arg764Gln
XR_002956289.1:n.2374G>A
NM_001363725.2:c.-41G>A	NP_001350654.1:n.-41G>A
NM_001371656.1:c.2498G>A	NP_001358585.1:p.Arg833Gln
NM_001374820.1:c.2498G>A	NP_001361749.1:p.Arg833Gln
NM_001374828.1:c.2459G>A MANE Select	NP_001361757.1:p.Arg820Gln
NM_017519.3:c.2459G>A	NP_059989.3:p.Arg820Gln