Canonical Allele Identifier: CA4067728

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 1741075
• ClinVar RCV Id: RCV002339867 ; RCV003094732
• dbSNP Id: rs748119553
• ExAC: 6:157522234 C / T
• gnomAD v2: 6-157522234-C-T
• gnomAD v4: 6-157201100-C-T
• MyVariant Identifiers: chr6:g.157522234C>T (hg19) ; chr6:g.157201100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157201100C>T , CM000668.2:g.157201100C>T	GRCh38
NC_000006.11:g.157522234C>T , CM000668.1:g.157522234C>T	GRCh37
NC_000006.10:g.157563926C>T	NCBI36
NG_032093.1:g.428171C>T
NG_032093.2:g.428171C>T
NG_066624.1:g.430075C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.4716C>T	ENSP00000055163.8:p.Pro1572=
ENST00000414678.8:c.4785C>T	ENSP00000412835.3:p.Pro1595=
ENST00000637015.2:c.5004C>T	ENSP00000489729.2:p.Pro1668=
ENST00000346085.10:c.4755C>T	ENSP00000344546.5:p.Pro1585=
ENST00000350026.10:c.4467C>T	ENSP00000055163.7:p.Pro1489=
ENST00000414678.7:c.3033C>T	ENSP00000412835.2:p.Pro1011=
ENST00000635849.1:c.2196C>T	ENSP00000490948.1:p.Pro732=
ENST00000635957.1:c.1827C>T	ENSP00000490385.1:p.Pro609=
ENST00000636227.1:n.3338C>T
ENST00000636254.1:n.795C>T
ENST00000636930.2:c.4875C>T MANE Select	ENSP00000490491.2:p.Pro1625=
ENST00000636940.1:n.2872C>T
ENST00000637015.1:c.2243C>T
ENST00000637568.1:c.2157C>T
ENST00000637741.1:n.1541C>T
ENST00000637810.1:c.2217C>T	ENSP00000489636.1:p.Pro739=
ENST00000637904.1:c.2376C>T	ENSP00000490550.1:p.Pro792=
ENST00000647938.1:c.4506C>T	ENSP00000498155.1:p.Pro1502=
ENST00000346085.9:c.4506C>T	ENSP00000344546.4:p.Pro1502=
ENST00000350026.9:c.4467C>T	ENSP00000055163.7:p.Pro1489=
ENST00000414678.6:c.3033C>T	ENSP00000412835.2:p.Pro1011=
NM_017519.2:c.4467C>T	NP_059989.2:p.Pro1489=
NM_020732.3:c.4506C>T	NP_065783.3:p.Pro1502=
XM_005267069.3:c.4626C>T	XP_005267126.2:p.Pro1542=
XM_011535984.1:c.3705C>T	XP_011534286.1:p.Pro1235=
XM_011535985.1:c.3525C>T	XP_011534287.1:p.Pro1175=
XM_011535986.1:c.3285C>T	XP_011534288.1:p.Pro1095=
XM_011535987.1:c.2904C>T	XP_011534289.1:p.Pro968=
XM_011535988.1:c.1767C>T	XP_011534290.1:p.Pro589=
NM_001346813.1:c.4626C>T	NP_001333742.1:p.Pro1542=
NM_001363725.1:c.2376C>T	NP_001350654.1:p.Pro792=
XM_011535984.2:c.4836C>T	XP_011534286.2:p.Pro1612=
XM_011535988.3:c.1767C>T	XP_011534290.1:p.Pro589=
XM_017011103.2:c.4737C>T	XP_016866592.1:p.Pro1579=
XM_017011104.1:c.4707C>T	XP_016866593.1:p.Pro1569=
XM_017011105.2:c.4677C>T	XP_016866594.1:p.Pro1559=
XM_017011106.2:c.4548C>T	XP_016866595.1:p.Pro1516=
XM_017011107.2:c.4527C>T	XP_016866596.1:p.Pro1509=
XR_002956289.1:n.4822C>T
NM_001363725.2:c.2376C>T	NP_001350654.1:p.Pro792=
NM_001371656.1:c.4755C>T	NP_001358585.1:p.Pro1585=
NM_001374820.1:c.4755C>T	NP_001361749.1:p.Pro1585=
NM_001374828.1:c.4875C>T MANE Select	NP_001361757.1:p.Pro1625=
NM_017519.3:c.4716C>T	NP_059989.3:p.Pro1572=