Canonical Allele Identifier: CA4067485

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 1535349
• ClinVar RCV Id: RCV002077728
• dbSNP Id: rs372186962
• ExAC: 6:157510819 T / C
• gnomAD v2: 6-157510819-T-C
• gnomAD v3: 6-157189685-T-C
• gnomAD v4: 6-157189685-T-C
• MyVariant Identifiers: chr6:g.157510819T>C (hg19) ; chr6:g.157189685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157189685T>C , CM000668.2:g.157189685T>C	GRCh38
NC_000006.11:g.157510819T>C , CM000668.1:g.157510819T>C	GRCh37
NC_000006.10:g.157552511T>C	NCBI36
NG_032093.1:g.416756T>C
NG_032093.2:g.416756T>C
NG_066624.1:g.418660T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000350026.11:c.3804T>C	ENSP00000055163.8:p.Thr1268=
ENST00000414678.8:c.3873T>C	ENSP00000412835.3:p.Thr1291=
ENST00000637015.2:c.4092T>C	ENSP00000489729.2:p.Thr1364=
ENST00000346085.10:c.3843T>C	ENSP00000344546.5:p.Thr1281=
ENST00000350026.10:c.3555T>C	ENSP00000055163.7:p.Thr1185=
ENST00000414678.7:c.2121T>C	ENSP00000412835.2:p.Thr707=
ENST00000635849.1:c.1284T>C	ENSP00000490948.1:p.Thr428=
ENST00000635957.1:c.918T>C	ENSP00000490385.1:p.Thr306=
ENST00000636930.2:c.3963T>C MANE Select	ENSP00000490491.2:p.Thr1321=
ENST00000636940.1:n.1960T>C
ENST00000637015.1:c.1331T>C
ENST00000637568.1:c.1245T>C
ENST00000637741.1:n.629T>C
ENST00000637810.1:c.1305T>C	ENSP00000489636.1:p.Thr435=
ENST00000637904.1:c.1464T>C	ENSP00000490550.1:p.Thr488=
ENST00000647938.1:c.3594T>C	ENSP00000498155.1:p.Thr1198=
ENST00000346085.9:c.3594T>C	ENSP00000344546.4:p.Thr1198=
ENST00000350026.9:c.3555T>C	ENSP00000055163.7:p.Thr1185=
ENST00000414678.6:c.2121T>C	ENSP00000412835.2:p.Thr707=
NM_017519.2:c.3555T>C	NP_059989.2:p.Thr1185=
NM_020732.3:c.3594T>C	NP_065783.3:p.Thr1198=
XM_005267069.3:c.3714T>C	XP_005267126.2:p.Thr1238=
XM_011535984.1:c.2793T>C	XP_011534286.1:p.Thr931=
XM_011535985.1:c.2613T>C	XP_011534287.1:p.Thr871=
XM_011535986.1:c.2373T>C	XP_011534288.1:p.Thr791=
XM_011535987.1:c.1992T>C	XP_011534289.1:p.Thr664=
XM_011535988.1:c.855T>C	XP_011534290.1:p.Thr285=
NM_001346813.1:c.3714T>C	NP_001333742.1:p.Thr1238=
NM_001363725.1:c.1464T>C	NP_001350654.1:p.Thr488=
XM_011535984.2:c.3924T>C	XP_011534286.2:p.Thr1308=
XM_011535988.3:c.855T>C	XP_011534290.1:p.Thr285=
XM_017011103.2:c.3825T>C	XP_016866592.1:p.Thr1275=
XM_017011104.1:c.3795T>C	XP_016866593.1:p.Thr1265=
XM_017011105.2:c.3765T>C	XP_016866594.1:p.Thr1255=
XM_017011106.2:c.3636T>C	XP_016866595.1:p.Thr1212=
XM_017011107.2:c.3615T>C	XP_016866596.1:p.Thr1205=
XR_002956289.1:n.4007T>C
NM_001363725.2:c.1464T>C	NP_001350654.1:p.Thr488=
NM_001371656.1:c.3843T>C	NP_001358585.1:p.Thr1281=
NM_001374820.1:c.3843T>C	NP_001361749.1:p.Thr1281=
NM_001374828.1:c.3963T>C MANE Select	NP_001361757.1:p.Thr1321=
NM_017519.3:c.3804T>C	NP_059989.3:p.Thr1268=