Canonical Allele Identifier: CA4067717

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 871030
• ClinVar RCV Id: RCV001090777 ; RCV002557950
• dbSNP Id: rs370838091
• ExAC: 6:157522188 C / T
• gnomAD v2: 6-157522188-C-T
• gnomAD v3: 6-157201054-C-T
• gnomAD v4: 6-157201054-C-T
• COSMIC: COSM3022390 ; COSM3022391
• MyVariant Identifiers: chr6:g.157522188C>T (hg19) ; chr6:g.157201054C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157201054C>T , CM000668.2:g.157201054C>T	GRCh38
NC_000006.11:g.157522188C>T , CM000668.1:g.157522188C>T	GRCh37
NC_000006.10:g.157563880C>T	NCBI36
NG_032093.1:g.428125C>T
NG_032093.2:g.428125C>T
NG_066624.1:g.430029C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000350026.11:c.4670C>T	ENSP00000055163.8:p.Ala1557Val
ENST00000414678.8:c.4739C>T	ENSP00000412835.3:p.Ala1580Val
ENST00000637015.2:c.4958C>T	ENSP00000489729.2:p.Ala1653Val
ENST00000346085.10:c.4709C>T	ENSP00000344546.5:p.Ala1570Val
ENST00000350026.10:c.4421C>T	ENSP00000055163.7:p.Ala1474Val
ENST00000414678.7:c.2987C>T	ENSP00000412835.2:p.Ala996Val
ENST00000635849.1:c.2150C>T	ENSP00000490948.1:p.Ala717Val
ENST00000635957.1:c.1781C>T	ENSP00000490385.1:p.Ala594Val
ENST00000636227.1:n.3292C>T
ENST00000636254.1:n.749C>T
ENST00000636930.2:c.4829C>T MANE Select	ENSP00000490491.2:p.Ala1610Val
ENST00000636940.1:n.2826C>T
ENST00000637015.1:c.2197C>T
ENST00000637568.1:c.2111C>T
ENST00000637741.1:n.1495C>T
ENST00000637810.1:c.2171C>T	ENSP00000489636.1:p.Ala724Val
ENST00000637904.1:c.2330C>T	ENSP00000490550.1:p.Ala777Val
ENST00000647938.1:c.4460C>T	ENSP00000498155.1:p.Ala1487Val
ENST00000346085.9:c.4460C>T	ENSP00000344546.4:p.Ala1487Val
ENST00000350026.9:c.4421C>T	ENSP00000055163.7:p.Ala1474Val
ENST00000414678.6:c.2987C>T	ENSP00000412835.2:p.Ala996Val
NM_017519.2:c.4421C>T	NP_059989.2:p.Ala1474Val
NM_020732.3:c.4460C>T	NP_065783.3:p.Ala1487Val
XM_005267069.3:c.4580C>T	XP_005267126.2:p.Ala1527Val
XM_011535984.1:c.3659C>T	XP_011534286.1:p.Ala1220Val
XM_011535985.1:c.3479C>T	XP_011534287.1:p.Ala1160Val
XM_011535986.1:c.3239C>T	XP_011534288.1:p.Ala1080Val
XM_011535987.1:c.2858C>T	XP_011534289.1:p.Ala953Val
XM_011535988.1:c.1721C>T	XP_011534290.1:p.Ala574Val
NM_001346813.1:c.4580C>T	NP_001333742.1:p.Ala1527Val
NM_001363725.1:c.2330C>T	NP_001350654.1:p.Ala777Val
XM_011535984.2:c.4790C>T	XP_011534286.2:p.Ala1597Val
XM_011535988.3:c.1721C>T	XP_011534290.1:p.Ala574Val
XM_017011103.2:c.4691C>T	XP_016866592.1:p.Ala1564Val
XM_017011104.1:c.4661C>T	XP_016866593.1:p.Ala1554Val
XM_017011105.2:c.4631C>T	XP_016866594.1:p.Ala1544Val
XM_017011106.2:c.4502C>T	XP_016866595.1:p.Ala1501Val
XM_017011107.2:c.4481C>T	XP_016866596.1:p.Ala1494Val
XR_002956289.1:n.4776C>T
NM_001363725.2:c.2330C>T	NP_001350654.1:p.Ala777Val
NM_001371656.1:c.4709C>T	NP_001358585.1:p.Ala1570Val
NM_001374820.1:c.4709C>T	NP_001361749.1:p.Ala1570Val
NM_001374828.1:c.4829C>T MANE Select	NP_001361757.1:p.Ala1610Val
NM_017519.3:c.4670C>T	NP_059989.3:p.Ala1557Val