Canonical Allele Identifier: CA4067180

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 2265340
• ClinVar RCV Id: RCV002808786
• dbSNP Id: rs377633743
• ExAC: 6:157470045 G / A
• gnomAD v2: 6-157470045-G-A
• gnomAD v3: 6-157148911-G-A
• gnomAD v4: 6-157148911-G-A
• MyVariant Identifiers: chr6:g.157470045G>A (hg19) ; chr6:g.157148911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157148911G>A , CM000668.2:g.157148911G>A	GRCh38
NC_000006.11:g.157470045G>A , CM000668.1:g.157470045G>A	GRCh37
NC_000006.10:g.157511737G>A	NCBI36
NG_032093.1:g.375982G>A
NG_032093.2:g.375982G>A
NG_066624.1:g.377886G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.3049G>A	ENSP00000055163.8:p.Ala1017Thr
ENST00000414678.8:c.2959G>A	ENSP00000412835.3:p.Ala987Thr
ENST00000637015.2:c.3049G>A	ENSP00000489729.2:p.Ala1017Thr
ENST00000319584.11:c.1063G>A	ENSP00000313006.7:p.Ala355Thr
ENST00000346085.10:c.3088G>A	ENSP00000344546.5:p.Ala1030Thr
ENST00000350026.10:c.2800G>A	ENSP00000055163.7:p.Ala934Thr
ENST00000414678.7:c.1207G>A	ENSP00000412835.2:p.Ala403Thr
ENST00000452544.2:n.950G>A
ENST00000635849.1:c.370G>A	ENSP00000490948.1:p.Ala124Thr
ENST00000635957.1:c.4G>A	ENSP00000490385.1:p.Ala2Thr
ENST00000636426.1:n.183G>A
ENST00000636930.2:c.3049G>A MANE Select	ENSP00000490491.2:p.Ala1017Thr
ENST00000637015.1:c.288G>A
ENST00000637568.1:c.92G>A
ENST00000637810.1:c.550G>A	ENSP00000489636.1:p.Ala184Thr
ENST00000637904.1:c.550G>A	ENSP00000490550.1:p.Ala184Thr
ENST00000647938.1:c.2839G>A	ENSP00000498155.1:p.Ala947Thr
ENST00000674190.1:n.1798G>A
ENST00000319584.10:c.1066G>A	ENSP00000313006.6:p.Ala356Thr
ENST00000346085.9:c.2839G>A	ENSP00000344546.4:p.Ala947Thr
ENST00000350026.9:c.2800G>A	ENSP00000055163.7:p.Ala934Thr
ENST00000400790.3:c.1G>A	ENSP00000383596.3:p.Ala1Thr
ENST00000414678.6:c.1207G>A	ENSP00000412835.2:p.Ala403Thr
ENST00000452544.1:n.896G>A
ENST00000478761.3:c.122G>A
NM_017519.2:c.2800G>A	NP_059989.2:p.Ala934Thr
NM_020732.3:c.2839G>A	NP_065783.3:p.Ala947Thr
XM_005267069.3:c.2800G>A	XP_005267126.2:p.Ala934Thr
XM_011535984.1:c.1750G>A	XP_011534286.1:p.Ala584Thr
XM_011535985.1:c.1570G>A	XP_011534287.1:p.Ala524Thr
XM_011535986.1:c.1330G>A	XP_011534288.1:p.Ala444Thr
XM_011535987.1:c.949G>A	XP_011534289.1:p.Ala317Thr
XM_011535988.1:c.-20+15704G>A	XP_011534290.1:n.-20+15704G>A
NM_001346813.1:c.2800G>A	NP_001333742.1:p.Ala934Thr
NM_001363725.1:c.550G>A	NP_001350654.1:p.Ala184Thr
XM_011535984.2:c.2881G>A	XP_011534286.2:p.Ala961Thr
XM_011535988.3:c.-20+15704G>A	XP_011534290.1:n.-20+15704G>A
XM_017011103.2:c.2881G>A	XP_016866592.1:p.Ala961Thr
XM_017011104.1:c.2881G>A	XP_016866593.1:p.Ala961Thr
XM_017011105.2:c.2881G>A	XP_016866594.1:p.Ala961Thr
XM_017011106.2:c.2881G>A	XP_016866595.1:p.Ala961Thr
XM_017011107.2:c.2701G>A	XP_016866596.1:p.Ala901Thr
XR_002956289.1:n.2964G>A
NM_001363725.2:c.550G>A	NP_001350654.1:p.Ala184Thr
NM_001371656.1:c.3088G>A	NP_001358585.1:p.Ala1030Thr
NM_001374820.1:c.3088G>A	NP_001361749.1:p.Ala1030Thr
NM_001374828.1:c.3049G>A MANE Select	NP_001361757.1:p.Ala1017Thr
NM_017519.3:c.3049G>A	NP_059989.3:p.Ala1017Thr