Canonical Allele Identifier: CA4067712

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 1569650
• ClinVar RCV Id: RCV002220836 ; RCV002331706
• dbSNP Id: rs568203974
• ExAC: 6:157522159 C / T
• gnomAD v2: 6-157522159-C-T
• gnomAD v3: 6-157201025-C-T
• gnomAD v4: 6-157201025-C-T
• MyVariant Identifiers: chr6:g.157522159C>T (hg19) ; chr6:g.157201025C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157201025C>T , CM000668.2:g.157201025C>T	GRCh38
NC_000006.11:g.157522159C>T , CM000668.1:g.157522159C>T	GRCh37
NC_000006.10:g.157563851C>T	NCBI36
NG_032093.1:g.428096C>T
NG_032093.2:g.428096C>T
NG_066624.1:g.430000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.4641C>T	ENSP00000055163.8:p.Asn1547=
ENST00000414678.8:c.4710C>T	ENSP00000412835.3:p.Asn1570=
ENST00000637015.2:c.4929C>T	ENSP00000489729.2:p.Asn1643=
ENST00000346085.10:c.4680C>T	ENSP00000344546.5:p.Asn1560=
ENST00000350026.10:c.4392C>T	ENSP00000055163.7:p.Asn1464=
ENST00000414678.7:c.2958C>T	ENSP00000412835.2:p.Asn986=
ENST00000635849.1:c.2121C>T	ENSP00000490948.1:p.Asn707=
ENST00000635957.1:c.1752C>T	ENSP00000490385.1:p.Asn584=
ENST00000636227.1:n.3263C>T
ENST00000636254.1:n.720C>T
ENST00000636930.2:c.4800C>T MANE Select	ENSP00000490491.2:p.Asn1600=
ENST00000636940.1:n.2797C>T
ENST00000637015.1:c.2168C>T
ENST00000637568.1:c.2082C>T
ENST00000637741.1:n.1466C>T
ENST00000637810.1:c.2142C>T	ENSP00000489636.1:p.Asn714=
ENST00000637904.1:c.2301C>T	ENSP00000490550.1:p.Asn767=
ENST00000647938.1:c.4431C>T	ENSP00000498155.1:p.Asn1477=
ENST00000346085.9:c.4431C>T	ENSP00000344546.4:p.Asn1477=
ENST00000350026.9:c.4392C>T	ENSP00000055163.7:p.Asn1464=
ENST00000414678.6:c.2958C>T	ENSP00000412835.2:p.Asn986=
NM_017519.2:c.4392C>T	NP_059989.2:p.Asn1464=
NM_020732.3:c.4431C>T	NP_065783.3:p.Asn1477=
XM_005267069.3:c.4551C>T	XP_005267126.2:p.Asn1517=
XM_011535984.1:c.3630C>T	XP_011534286.1:p.Asn1210=
XM_011535985.1:c.3450C>T	XP_011534287.1:p.Asn1150=
XM_011535986.1:c.3210C>T	XP_011534288.1:p.Asn1070=
XM_011535987.1:c.2829C>T	XP_011534289.1:p.Asn943=
XM_011535988.1:c.1692C>T	XP_011534290.1:p.Asn564=
NM_001346813.1:c.4551C>T	NP_001333742.1:p.Asn1517=
NM_001363725.1:c.2301C>T	NP_001350654.1:p.Asn767=
XM_011535984.2:c.4761C>T	XP_011534286.2:p.Asn1587=
XM_011535988.3:c.1692C>T	XP_011534290.1:p.Asn564=
XM_017011103.2:c.4662C>T	XP_016866592.1:p.Asn1554=
XM_017011104.1:c.4632C>T	XP_016866593.1:p.Asn1544=
XM_017011105.2:c.4602C>T	XP_016866594.1:p.Asn1534=
XM_017011106.2:c.4473C>T	XP_016866595.1:p.Asn1491=
XM_017011107.2:c.4452C>T	XP_016866596.1:p.Asn1484=
XR_002956289.1:n.4747C>T
NM_001363725.2:c.2301C>T	NP_001350654.1:p.Asn767=
NM_001371656.1:c.4680C>T	NP_001358585.1:p.Asn1560=
NM_001374820.1:c.4680C>T	NP_001361749.1:p.Asn1560=
NM_001374828.1:c.4800C>T MANE Select	NP_001361757.1:p.Asn1600=
NM_017519.3:c.4641C>T	NP_059989.3:p.Asn1547=