Canonical Allele Identifier: CA4066849

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 975340
• ClinVar RCV Id: RCV001251900
• dbSNP Id: rs754042537
• ExAC: 6:157150512 G / A
• gnomAD v2: 6-157150512-G-A
• gnomAD v4: 6-156829378-G-A
• COSMIC: COSM1441807 ; COSM1441808
• MyVariant Identifiers: chr6:g.157150512G>A (hg19) ; chr6:g.156829378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.156829378G>A , CM000668.2:g.156829378G>A	GRCh38
NC_000006.11:g.157150512G>A , CM000668.1:g.157150512G>A	GRCh37
NC_000006.10:g.157192204G>A	NCBI36
NG_032093.1:g.56449G>A
NG_032093.2:g.56449G>A
NG_066624.1:g.58353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.1943G>A	ENSP00000055163.8:p.Arg648Gln
ENST00000414678.8:c.1943G>A	ENSP00000412835.3:p.Arg648Gln
ENST00000637015.2:c.1943G>A	ENSP00000489729.2:p.Arg648Gln
ENST00000346085.10:c.1943G>A	ENSP00000344546.5:p.Arg648Gln
ENST00000350026.10:c.1694G>A	ENSP00000055163.7:p.Arg565Gln
ENST00000414678.7:c.191G>A	ENSP00000412835.2:p.Arg64Gln
ENST00000494260.2:c.224G>A	ENSP00000490094.1:p.Arg75Gln
ENST00000636205.1:n.6G>A
ENST00000636607.1:c.206G>A	ENSP00000490050.1:p.Arg69Gln
ENST00000636748.1:c.224G>A	ENSP00000489917.1:p.Arg75Gln
ENST00000636930.2:c.1943G>A MANE Select	ENSP00000490491.2:p.Arg648Gln
ENST00000637910.1:n.224G>A
ENST00000638000.1:c.160G>A
ENST00000647938.1:c.1694G>A	ENSP00000498155.1:p.Arg565Gln
ENST00000674190.1:n.650G>A
ENST00000674298.1:c.1683G>A
ENST00000346085.9:c.1694G>A	ENSP00000344546.4:p.Arg565Gln
ENST00000350026.9:c.1694G>A	ENSP00000055163.7:p.Arg565Gln
ENST00000414678.6:c.191G>A	ENSP00000412835.2:p.Arg64Gln
ENST00000494260.1:n.152G>A
NM_017519.2:c.1694G>A	NP_059989.2:p.Arg565Gln
NM_020732.3:c.1694G>A	NP_065783.3:p.Arg565Gln
XM_005267069.3:c.1694G>A	XP_005267126.2:p.Arg565Gln
XM_011535984.1:c.563G>A	XP_011534286.1:p.Arg188Gln
XM_011535985.1:c.563G>A	XP_011534287.1:p.Arg188Gln
XM_011535986.1:c.143G>A	XP_011534288.1:p.Arg48Gln
NM_001346813.1:c.1694G>A	NP_001333742.1:p.Arg565Gln
XM_011535984.2:c.1694G>A	XP_011534286.2:p.Arg565Gln
XM_017011103.2:c.1694G>A	XP_016866592.1:p.Arg565Gln
XM_017011104.1:c.1694G>A	XP_016866593.1:p.Arg565Gln
XM_017011105.2:c.1694G>A	XP_016866594.1:p.Arg565Gln
XM_017011106.2:c.1694G>A	XP_016866595.1:p.Arg565Gln
XM_017011107.2:c.1694G>A	XP_016866596.1:p.Arg565Gln
XR_002956289.1:n.1777G>A
NM_001371656.1:c.1943G>A	NP_001358585.1:p.Arg648Gln
NM_001374820.1:c.1943G>A	NP_001361749.1:p.Arg648Gln
NM_001374828.1:c.1943G>A MANE Select	NP_001361757.1:p.Arg648Gln
NM_017519.3:c.1943G>A	NP_059989.3:p.Arg648Gln