Canonical Allele Identifier: CA366384083
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2635231
ClinVar RCV Id: RCV004534237

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.156829307G>T , CM000668.2:g.156829307G>T GRCh38
NC_000006.11:g.157150441G>T , CM000668.1:g.157150441G>T GRCh37
NC_000006.10:g.157192133G>T NCBI36
NG_032093.1:g.56378G>T
NG_032093.2:g.56378G>T
NG_066624.1:g.58282G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.1872G>T ENSP00000055163.8:p.Gln624His
ENST00000414678.8:c.1872G>T ENSP00000412835.3:p.Gln624His
ENST00000637015.2:c.1872G>T ENSP00000489729.2:p.Gln624His
ENST00000346085.10:c.1872G>T ENSP00000344546.5:p.Gln624His
ENST00000350026.10:c.1623G>T ENSP00000055163.7:p.Gln541His
ENST00000414678.7:c.120G>T ENSP00000412835.2:p.Gln40His
ENST00000494260.2:c.153G>T ENSP00000490094.1:p.Gln51His
ENST00000636607.1:c.135G>T ENSP00000490050.1:p.Gln45His
ENST00000636748.1:c.153G>T ENSP00000489917.1:p.Gln51His
ENST00000636930.2:c.1872G>T MANE Select ENSP00000490491.2:p.Gln624His
ENST00000637910.1:n.153G>T
ENST00000638000.1:c.89G>T
ENST00000647938.1:c.1623G>T ENSP00000498155.1:p.Gln541His
ENST00000674190.1:n.579G>T
ENST00000674298.1:c.1612G>T
ENST00000346085.9:c.1623G>T ENSP00000344546.4:p.Gln541His
ENST00000350026.9:c.1623G>T ENSP00000055163.7:p.Gln541His
ENST00000414678.6:c.120G>T ENSP00000412835.2:p.Gln40His
ENST00000494260.1:n.81G>T
NM_017519.2:c.1623G>T NP_059989.2:p.Gln541His
NM_020732.3:c.1623G>T NP_065783.3:p.Gln541His
XM_005267069.3:c.1623G>T XP_005267126.2:p.Gln541His
XM_011535984.1:c.492G>T XP_011534286.1:p.Gln164His
XM_011535985.1:c.492G>T XP_011534287.1:p.Gln164His
XM_011535986.1:c.72G>T XP_011534288.1:p.Gln24His
NM_001346813.1:c.1623G>T NP_001333742.1:p.Gln541His
XM_011535984.2:c.1623G>T XP_011534286.2:p.Gln541His
XM_017011103.2:c.1623G>T XP_016866592.1:p.Gln541His
XM_017011104.1:c.1623G>T XP_016866593.1:p.Gln541His
XM_017011105.2:c.1623G>T XP_016866594.1:p.Gln541His
XM_017011106.2:c.1623G>T XP_016866595.1:p.Gln541His
XM_017011107.2:c.1623G>T XP_016866596.1:p.Gln541His
XR_002956289.1:n.1706G>T
NM_001371656.1:c.1872G>T NP_001358585.1:p.Gln624His
NM_001374820.1:c.1872G>T NP_001361749.1:p.Gln624His
NM_001374828.1:c.1872G>T MANE Select NP_001361757.1:p.Gln624His
NM_017519.3:c.1872G>T NP_059989.3:p.Gln624His