Canonical Allele Identifier: CA4066847

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 1178912
• ClinVar RCV Id: RCV001535295 ; RCV002414254 ; RCV004536162
• dbSNP Id: rs143370913
• ExAC: 6:157150511 C / A
• gnomAD v2: 6-157150511-C-A
• gnomAD v3: 6-156829377-C-A
• gnomAD v4: 6-156829377-C-A
• MyVariant Identifiers: chr6:g.157150511C>A (hg19) ; chr6:g.156829377C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.156829377C>A , CM000668.2:g.156829377C>A	GRCh38
NC_000006.11:g.157150511C>A , CM000668.1:g.157150511C>A	GRCh37
NC_000006.10:g.157192203C>A	NCBI36
NG_032093.1:g.56448C>A
NG_032093.2:g.56448C>A
NG_066624.1:g.58352C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.1942C>A	ENSP00000055163.8:p.Arg648=
ENST00000414678.8:c.1942C>A	ENSP00000412835.3:p.Arg648=
ENST00000637015.2:c.1942C>A	ENSP00000489729.2:p.Arg648=
ENST00000346085.10:c.1942C>A	ENSP00000344546.5:p.Arg648=
ENST00000350026.10:c.1693C>A	ENSP00000055163.7:p.Arg565=
ENST00000414678.7:c.190C>A	ENSP00000412835.2:p.Arg64=
ENST00000494260.2:c.223C>A	ENSP00000490094.1:p.Arg75=
ENST00000636205.1:n.5C>A
ENST00000636607.1:c.205C>A	ENSP00000490050.1:p.Arg69=
ENST00000636748.1:c.223C>A	ENSP00000489917.1:p.Arg75=
ENST00000636930.2:c.1942C>A MANE Select	ENSP00000490491.2:p.Arg648=
ENST00000637910.1:n.223C>A
ENST00000638000.1:c.159C>A
ENST00000647938.1:c.1693C>A	ENSP00000498155.1:p.Arg565=
ENST00000674190.1:n.649C>A
ENST00000674298.1:c.1682C>A
ENST00000346085.9:c.1693C>A	ENSP00000344546.4:p.Arg565=
ENST00000350026.9:c.1693C>A	ENSP00000055163.7:p.Arg565=
ENST00000414678.6:c.190C>A	ENSP00000412835.2:p.Arg64=
ENST00000494260.1:n.151C>A
NM_017519.2:c.1693C>A	NP_059989.2:p.Arg565=
NM_020732.3:c.1693C>A	NP_065783.3:p.Arg565=
XM_005267069.3:c.1693C>A	XP_005267126.2:p.Arg565=
XM_011535984.1:c.562C>A	XP_011534286.1:p.Arg188=
XM_011535985.1:c.562C>A	XP_011534287.1:p.Arg188=
XM_011535986.1:c.142C>A	XP_011534288.1:p.Arg48=
NM_001346813.1:c.1693C>A	NP_001333742.1:p.Arg565=
XM_011535984.2:c.1693C>A	XP_011534286.2:p.Arg565=
XM_017011103.2:c.1693C>A	XP_016866592.1:p.Arg565=
XM_017011104.1:c.1693C>A	XP_016866593.1:p.Arg565=
XM_017011105.2:c.1693C>A	XP_016866594.1:p.Arg565=
XM_017011106.2:c.1693C>A	XP_016866595.1:p.Arg565=
XM_017011107.2:c.1693C>A	XP_016866596.1:p.Arg565=
XR_002956289.1:n.1776C>A
NM_001371656.1:c.1942C>A	NP_001358585.1:p.Arg648=
NM_001374820.1:c.1942C>A	NP_001361749.1:p.Arg648=
NM_001374828.1:c.1942C>A MANE Select	NP_001361757.1:p.Arg648=
NM_017519.3:c.1942C>A	NP_059989.3:p.Arg648=