Canonical Allele Identifier: CA4067184

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 588348
• ClinVar RCV Id: RCV001807324 ; RCV001719160 ; RCV002314441
• dbSNP Id: rs148749268
• ExAC: 6:157470068 G / C
• gnomAD v2: 6-157470068-G-C
• gnomAD v3: 6-157148934-G-C
• gnomAD v4: 6-157148934-G-C
• MyVariant Identifiers: chr6:g.157470068G>C (hg19) ; chr6:g.157148934G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157148934G>C , CM000668.2:g.157148934G>C	GRCh38
NC_000006.11:g.157470068G>C , CM000668.1:g.157470068G>C	GRCh37
NC_000006.10:g.157511760G>C	NCBI36
NG_032093.1:g.376005G>C
NG_032093.2:g.376005G>C
NG_066624.1:g.377909G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.3072G>C	ENSP00000055163.8:p.Ala1024=
ENST00000414678.8:c.2982G>C	ENSP00000412835.3:p.Ala994=
ENST00000637015.2:c.3072G>C	ENSP00000489729.2:p.Ala1024=
ENST00000319584.11:c.1086G>C	ENSP00000313006.7:p.Ala362=
ENST00000346085.10:c.3111G>C	ENSP00000344546.5:p.Ala1037=
ENST00000350026.10:c.2823G>C	ENSP00000055163.7:p.Ala941=
ENST00000414678.7:c.1230G>C	ENSP00000412835.2:p.Ala410=
ENST00000452544.2:n.973G>C
ENST00000635849.1:c.393G>C	ENSP00000490948.1:p.Ala131=
ENST00000635957.1:c.27G>C	ENSP00000490385.1:p.Ala9=
ENST00000636426.1:n.206G>C
ENST00000636930.2:c.3072G>C MANE Select	ENSP00000490491.2:p.Ala1024=
ENST00000637015.1:c.311G>C
ENST00000637568.1:c.115G>C
ENST00000637810.1:c.573G>C	ENSP00000489636.1:p.Ala191=
ENST00000637904.1:c.573G>C	ENSP00000490550.1:p.Ala191=
ENST00000647938.1:c.2862G>C	ENSP00000498155.1:p.Ala954=
ENST00000674190.1:n.1821G>C
ENST00000319584.10:c.1089G>C	ENSP00000313006.6:p.Ala363=
ENST00000346085.9:c.2862G>C	ENSP00000344546.4:p.Ala954=
ENST00000350026.9:c.2823G>C	ENSP00000055163.7:p.Ala941=
ENST00000400790.3:c.24G>C	ENSP00000383596.3:p.Ala8=
ENST00000414678.6:c.1230G>C	ENSP00000412835.2:p.Ala410=
ENST00000452544.1:n.919G>C
ENST00000478761.3:c.145G>C
NM_017519.2:c.2823G>C	NP_059989.2:p.Ala941=
NM_020732.3:c.2862G>C	NP_065783.3:p.Ala954=
XM_005267069.3:c.2823G>C	XP_005267126.2:p.Ala941=
XM_011535984.1:c.1773G>C	XP_011534286.1:p.Ala591=
XM_011535985.1:c.1593G>C	XP_011534287.1:p.Ala531=
XM_011535986.1:c.1353G>C	XP_011534288.1:p.Ala451=
XM_011535987.1:c.972G>C	XP_011534289.1:p.Ala324=
XM_011535988.1:c.-20+15727G>C	XP_011534290.1:n.-20+15727G>C
NM_001346813.1:c.2823G>C	NP_001333742.1:p.Ala941=
NM_001363725.1:c.573G>C	NP_001350654.1:p.Ala191=
XM_011535984.2:c.2904G>C	XP_011534286.2:p.Ala968=
XM_011535988.3:c.-20+15727G>C	XP_011534290.1:n.-20+15727G>C
XM_017011103.2:c.2904G>C	XP_016866592.1:p.Ala968=
XM_017011104.1:c.2904G>C	XP_016866593.1:p.Ala968=
XM_017011105.2:c.2904G>C	XP_016866594.1:p.Ala968=
XM_017011106.2:c.2904G>C	XP_016866595.1:p.Ala968=
XM_017011107.2:c.2724G>C	XP_016866596.1:p.Ala908=
XR_002956289.1:n.2987G>C
NM_001363725.2:c.573G>C	NP_001350654.1:p.Ala191=
NM_001371656.1:c.3111G>C	NP_001358585.1:p.Ala1037=
NM_001374820.1:c.3111G>C	NP_001361749.1:p.Ala1037=
NM_001374828.1:c.3072G>C MANE Select	NP_001361757.1:p.Ala1024=
NM_017519.3:c.3072G>C	NP_059989.3:p.Ala1024=