Canonical Allele Identifier: CA4067519

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 1336390
• ClinVar RCV Id: RCV001817345
• dbSNP Id: rs768227723
• ExAC: 6:157511199 A / G
• gnomAD v2: 6-157511199-A-G
• gnomAD v4: 6-157190065-A-G
• COSMIC: COSM5975876 ; COSM5975877
• MyVariant Identifiers: chr6:g.157511199A>G (hg19) ; chr6:g.157190065A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157190065A>G , CM000668.2:g.157190065A>G	GRCh38
NC_000006.11:g.157511199A>G , CM000668.1:g.157511199A>G	GRCh37
NC_000006.10:g.157552891A>G	NCBI36
NG_032093.1:g.417136A>G
NG_032093.2:g.417136A>G
NG_066624.1:g.419040A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.3927A>G	ENSP00000055163.8:p.Pro1309=
ENST00000414678.8:c.3996A>G	ENSP00000412835.3:p.Pro1332=
ENST00000637015.2:c.4215A>G	ENSP00000489729.2:p.Pro1405=
ENST00000346085.10:c.3966A>G	ENSP00000344546.5:p.Pro1322=
ENST00000350026.10:c.3678A>G	ENSP00000055163.7:p.Pro1226=
ENST00000414678.7:c.2244A>G	ENSP00000412835.2:p.Pro748=
ENST00000635849.1:c.1407A>G	ENSP00000490948.1:p.Pro469=
ENST00000635957.1:c.1038A>G	ENSP00000490385.1:p.Pro346=
ENST00000636930.2:c.4086A>G MANE Select	ENSP00000490491.2:p.Pro1362=
ENST00000636940.1:n.2083A>G
ENST00000637015.1:c.1454A>G
ENST00000637568.1:c.1368A>G
ENST00000637741.1:n.752A>G
ENST00000637810.1:c.1428A>G	ENSP00000489636.1:p.Pro476=
ENST00000637904.1:c.1587A>G	ENSP00000490550.1:p.Pro529=
ENST00000647938.1:c.3717A>G	ENSP00000498155.1:p.Pro1239=
ENST00000346085.9:c.3717A>G	ENSP00000344546.4:p.Pro1239=
ENST00000350026.9:c.3678A>G	ENSP00000055163.7:p.Pro1226=
ENST00000414678.6:c.2244A>G	ENSP00000412835.2:p.Pro748=
NM_017519.2:c.3678A>G	NP_059989.2:p.Pro1226=
NM_020732.3:c.3717A>G	NP_065783.3:p.Pro1239=
XM_005267069.3:c.3837A>G	XP_005267126.2:p.Pro1279=
XM_011535984.1:c.2916A>G	XP_011534286.1:p.Pro972=
XM_011535985.1:c.2736A>G	XP_011534287.1:p.Pro912=
XM_011535986.1:c.2496A>G	XP_011534288.1:p.Pro832=
XM_011535987.1:c.2115A>G	XP_011534289.1:p.Pro705=
XM_011535988.1:c.978A>G	XP_011534290.1:p.Pro326=
NM_001346813.1:c.3837A>G	NP_001333742.1:p.Pro1279=
NM_001363725.1:c.1587A>G	NP_001350654.1:p.Pro529=
XM_011535984.2:c.4047A>G	XP_011534286.2:p.Pro1349=
XM_011535988.3:c.978A>G	XP_011534290.1:p.Pro326=
XM_017011103.2:c.3948A>G	XP_016866592.1:p.Pro1316=
XM_017011104.1:c.3918A>G	XP_016866593.1:p.Pro1306=
XM_017011105.2:c.3888A>G	XP_016866594.1:p.Pro1296=
XM_017011106.2:c.3759A>G	XP_016866595.1:p.Pro1253=
XM_017011107.2:c.3738A>G	XP_016866596.1:p.Pro1246=
XR_002956289.1:n.4130A>G
NM_001363725.2:c.1587A>G	NP_001350654.1:p.Pro529=
NM_001371656.1:c.3966A>G	NP_001358585.1:p.Pro1322=
NM_001374820.1:c.3966A>G	NP_001361749.1:p.Pro1322=
NM_001374828.1:c.4086A>G MANE Select	NP_001361757.1:p.Pro1362=
NM_017519.3:c.3927A>G	NP_059989.3:p.Pro1309=