Canonical Allele Identifier: CA4067369

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 2721685
• ClinVar RCV Id: RCV003556565 ; RCV003946693
• dbSNP Id: rs376995038
• ExAC: 6:157502261 G / A
• gnomAD v2: 6-157502261-G-A
• gnomAD v3: 6-157181127-G-A
• gnomAD v4: 6-157181127-G-A
• MyVariant Identifiers: chr6:g.157502261G>A (hg19) ; chr6:g.157181127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157181127G>A , CM000668.2:g.157181127G>A	GRCh38
NC_000006.11:g.157502261G>A , CM000668.1:g.157502261G>A	GRCh37
NC_000006.10:g.157543953G>A	NCBI36
NG_032093.1:g.408198G>A
NG_032093.2:g.408198G>A
NG_066624.1:g.410102G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000350026.11:c.3504G>A	ENSP00000055163.8:p.Leu1168=
ENST00000414678.8:c.3573G>A	ENSP00000412835.3:p.Leu1191=
ENST00000637015.2:c.3792G>A	ENSP00000489729.2:p.Leu1264=
ENST00000319584.11:c.1677G>A	ENSP00000313006.7:p.Leu559=
ENST00000346085.10:c.3543G>A	ENSP00000344546.5:p.Leu1181=
ENST00000350026.10:c.3255G>A	ENSP00000055163.7:p.Leu1085=
ENST00000414678.7:c.1821G>A	ENSP00000412835.2:p.Leu607=
ENST00000635849.1:c.984G>A	ENSP00000490948.1:p.Leu328=
ENST00000635957.1:c.618G>A	ENSP00000490385.1:p.Leu206=
ENST00000636930.2:c.3663G>A MANE Select	ENSP00000490491.2:p.Leu1221=
ENST00000636940.1:n.1660G>A
ENST00000637015.1:c.1031G>A
ENST00000637568.1:c.945G>A
ENST00000637741.1:n.329G>A
ENST00000637810.1:c.1005G>A	ENSP00000489636.1:p.Leu335=
ENST00000637904.1:c.1164G>A	ENSP00000490550.1:p.Leu388=
ENST00000647938.1:c.3294G>A	ENSP00000498155.1:p.Leu1098=
ENST00000319584.10:c.1680G>A	ENSP00000313006.6:p.Leu560=
ENST00000346085.9:c.3294G>A	ENSP00000344546.4:p.Leu1098=
ENST00000350026.9:c.3255G>A	ENSP00000055163.7:p.Leu1085=
ENST00000400790.3:c.456G>A	ENSP00000383596.3:p.Leu152=
ENST00000414678.6:c.1821G>A	ENSP00000412835.2:p.Leu607=
ENST00000478761.3:c.865G>A
NM_017519.2:c.3255G>A	NP_059989.2:p.Leu1085=
NM_020732.3:c.3294G>A	NP_065783.3:p.Leu1098=
XM_005267069.3:c.3414G>A	XP_005267126.2:p.Leu1138=
XM_011535984.1:c.2493G>A	XP_011534286.1:p.Leu831=
XM_011535985.1:c.2313G>A	XP_011534287.1:p.Leu771=
XM_011535986.1:c.2073G>A	XP_011534288.1:p.Leu691=
XM_011535987.1:c.1692G>A	XP_011534289.1:p.Leu564=
XM_011535988.1:c.555G>A	XP_011534290.1:p.Leu185=
NM_001346813.1:c.3414G>A	NP_001333742.1:p.Leu1138=
NM_001363725.1:c.1164G>A	NP_001350654.1:p.Leu388=
XM_011535984.2:c.3624G>A	XP_011534286.2:p.Leu1208=
XM_011535988.3:c.555G>A	XP_011534290.1:p.Leu185=
XM_017011103.2:c.3525G>A	XP_016866592.1:p.Leu1175=
XM_017011104.1:c.3495G>A	XP_016866593.1:p.Leu1165=
XM_017011105.2:c.3465G>A	XP_016866594.1:p.Leu1155=
XM_017011106.2:c.3336G>A	XP_016866595.1:p.Leu1112=
XM_017011107.2:c.3315G>A	XP_016866596.1:p.Leu1105=
XR_002956289.1:n.3707G>A
NM_001363725.2:c.1164G>A	NP_001350654.1:p.Leu388=
NM_001371656.1:c.3543G>A	NP_001358585.1:p.Leu1181=
NM_001374820.1:c.3543G>A	NP_001361749.1:p.Leu1181=
NM_001374828.1:c.3663G>A MANE Select	NP_001361757.1:p.Leu1221=
NM_017519.3:c.3504G>A	NP_059989.3:p.Leu1168=