Canonical Allele Identifier: CA366234077
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2662124
ClinVar RCV Id: RCV003443619

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157189681C>G , CM000668.2:g.157189681C>G GRCh38
NC_000006.11:g.157510815C>G , CM000668.1:g.157510815C>G GRCh37
NC_000006.10:g.157552507C>G NCBI36
NG_032093.1:g.416752C>G
NG_032093.2:g.416752C>G
NG_066624.1:g.418656C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000350026.11:c.3800C>G ENSP00000055163.8:p.Ser1267Ter
ENST00000414678.8:c.3869C>G ENSP00000412835.3:p.Ser1290Ter
ENST00000637015.2:c.4088C>G ENSP00000489729.2:p.Ser1363Ter
ENST00000346085.10:c.3839C>G ENSP00000344546.5:p.Ser1280Ter
ENST00000350026.10:c.3551C>G ENSP00000055163.7:p.Ser1184Ter
ENST00000414678.7:c.2117C>G ENSP00000412835.2:p.Ser706Ter
ENST00000635849.1:c.1280C>G ENSP00000490948.1:p.Ser427Ter
ENST00000635957.1:c.914C>G ENSP00000490385.1:p.Ser305Ter
ENST00000636930.2:c.3959C>G MANE Select ENSP00000490491.2:p.Ser1320Ter
ENST00000636940.1:n.1956C>G
ENST00000637015.1:c.1327C>G
ENST00000637568.1:c.1241C>G
ENST00000637741.1:n.625C>G
ENST00000637810.1:c.1301C>G ENSP00000489636.1:p.Ser434Ter
ENST00000637904.1:c.1460C>G ENSP00000490550.1:p.Ser487Ter
ENST00000647938.1:c.3590C>G ENSP00000498155.1:p.Ser1197Ter
ENST00000346085.9:c.3590C>G ENSP00000344546.4:p.Ser1197Ter
ENST00000350026.9:c.3551C>G ENSP00000055163.7:p.Ser1184Ter
ENST00000414678.6:c.2117C>G ENSP00000412835.2:p.Ser706Ter
NM_017519.2:c.3551C>G NP_059989.2:p.Ser1184Ter
NM_020732.3:c.3590C>G NP_065783.3:p.Ser1197Ter
XM_005267069.3:c.3710C>G XP_005267126.2:p.Ser1237Ter
XM_011535984.1:c.2789C>G XP_011534286.1:p.Ser930Ter
XM_011535985.1:c.2609C>G XP_011534287.1:p.Ser870Ter
XM_011535986.1:c.2369C>G XP_011534288.1:p.Ser790Ter
XM_011535987.1:c.1988C>G XP_011534289.1:p.Ser663Ter
XM_011535988.1:c.851C>G XP_011534290.1:p.Ser284Ter
NM_001346813.1:c.3710C>G NP_001333742.1:p.Ser1237Ter
NM_001363725.1:c.1460C>G NP_001350654.1:p.Ser487Ter
XM_011535984.2:c.3920C>G XP_011534286.2:p.Ser1307Ter
XM_011535988.3:c.851C>G XP_011534290.1:p.Ser284Ter
XM_017011103.2:c.3821C>G XP_016866592.1:p.Ser1274Ter
XM_017011104.1:c.3791C>G XP_016866593.1:p.Ser1264Ter
XM_017011105.2:c.3761C>G XP_016866594.1:p.Ser1254Ter
XM_017011106.2:c.3632C>G XP_016866595.1:p.Ser1211Ter
XM_017011107.2:c.3611C>G XP_016866596.1:p.Ser1204Ter
XR_002956289.1:n.4003C>G
NM_001363725.2:c.1460C>G NP_001350654.1:p.Ser487Ter
NM_001371656.1:c.3839C>G NP_001358585.1:p.Ser1280Ter
NM_001374820.1:c.3839C>G NP_001361749.1:p.Ser1280Ter
NM_001374828.1:c.3959C>G MANE Select NP_001361757.1:p.Ser1320Ter
NM_017519.3:c.3800C>G NP_059989.3:p.Ser1267Ter