Canonical Allele Identifier: CA366234940

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 1328251
• ClinVar RCV Id: RCV001795683
• dbSNP Id: rs1187357394
• gnomAD v3: 6-157190070-C-T
• gnomAD v4: 6-157190070-C-T
• MyVariant Identifiers: chr6:g.157511204C>T (hg19) ; chr6:g.157190070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157190070C>T , CM000668.2:g.157190070C>T	GRCh38
NC_000006.11:g.157511204C>T , CM000668.1:g.157511204C>T	GRCh37
NC_000006.10:g.157552896C>T	NCBI36
NG_032093.1:g.417141C>T
NG_032093.2:g.417141C>T
NG_066624.1:g.419045C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.3932C>T	ENSP00000055163.8:p.Ser1311Leu
ENST00000414678.8:c.4001C>T	ENSP00000412835.3:p.Ser1334Leu
ENST00000637015.2:c.4220C>T	ENSP00000489729.2:p.Ser1407Leu
ENST00000346085.10:c.3971C>T	ENSP00000344546.5:p.Ser1324Leu
ENST00000350026.10:c.3683C>T	ENSP00000055163.7:p.Ser1228Leu
ENST00000414678.7:c.2249C>T	ENSP00000412835.2:p.Ser750Leu
ENST00000635849.1:c.1412C>T	ENSP00000490948.1:p.Ser471Leu
ENST00000635957.1:c.1043C>T	ENSP00000490385.1:p.Ser348Leu
ENST00000636930.2:c.4091C>T MANE Select	ENSP00000490491.2:p.Ser1364Leu
ENST00000636940.1:n.2088C>T
ENST00000637015.1:c.1459C>T
ENST00000637568.1:c.1373C>T
ENST00000637741.1:n.757C>T
ENST00000637810.1:c.1433C>T	ENSP00000489636.1:p.Ser478Leu
ENST00000637904.1:c.1592C>T	ENSP00000490550.1:p.Ser531Leu
ENST00000647938.1:c.3722C>T	ENSP00000498155.1:p.Ser1241Leu
ENST00000346085.9:c.3722C>T	ENSP00000344546.4:p.Ser1241Leu
ENST00000350026.9:c.3683C>T	ENSP00000055163.7:p.Ser1228Leu
ENST00000414678.6:c.2249C>T	ENSP00000412835.2:p.Ser750Leu
NM_017519.2:c.3683C>T	NP_059989.2:p.Ser1228Leu
NM_020732.3:c.3722C>T	NP_065783.3:p.Ser1241Leu
XM_005267069.3:c.3842C>T	XP_005267126.2:p.Ser1281Leu
XM_011535984.1:c.2921C>T	XP_011534286.1:p.Ser974Leu
XM_011535985.1:c.2741C>T	XP_011534287.1:p.Ser914Leu
XM_011535986.1:c.2501C>T	XP_011534288.1:p.Ser834Leu
XM_011535987.1:c.2120C>T	XP_011534289.1:p.Ser707Leu
XM_011535988.1:c.983C>T	XP_011534290.1:p.Ser328Leu
NM_001346813.1:c.3842C>T	NP_001333742.1:p.Ser1281Leu
NM_001363725.1:c.1592C>T	NP_001350654.1:p.Ser531Leu
XM_011535984.2:c.4052C>T	XP_011534286.2:p.Ser1351Leu
XM_011535988.3:c.983C>T	XP_011534290.1:p.Ser328Leu
XM_017011103.2:c.3953C>T	XP_016866592.1:p.Ser1318Leu
XM_017011104.1:c.3923C>T	XP_016866593.1:p.Ser1308Leu
XM_017011105.2:c.3893C>T	XP_016866594.1:p.Ser1298Leu
XM_017011106.2:c.3764C>T	XP_016866595.1:p.Ser1255Leu
XM_017011107.2:c.3743C>T	XP_016866596.1:p.Ser1248Leu
XR_002956289.1:n.4135C>T
NM_001363725.2:c.1592C>T	NP_001350654.1:p.Ser531Leu
NM_001371656.1:c.3971C>T	NP_001358585.1:p.Ser1324Leu
NM_001374820.1:c.3971C>T	NP_001361749.1:p.Ser1324Leu
NM_001374828.1:c.4091C>T MANE Select	NP_001361757.1:p.Ser1364Leu
NM_017519.3:c.3932C>T	NP_059989.3:p.Ser1311Leu