Canonical Allele Identifier: CA156924

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 133551
• ClinVar RCV Id: RCV000120064 ; RCV001636678 ; RCV002259634 ; RCV003935136
• dbSNP Id: rs140946580
• ExAC: 1:27105725 A / G
• gnomAD v2: 1-27105725-A-G
• gnomAD v3: 1-26779234-A-G
• gnomAD v4: 1-26779234-A-G
• COSMIC: COSM3724472
• MyVariant Identifiers: chr1:g.27105725A>G (hg19) ; chr1:g.26779234A>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779234A>G , CM000663.2:g.26779234A>G	GRCh38
NC_000001.10:g.27105725A>G , CM000663.1:g.27105725A>G	GRCh37
NC_000001.9:g.26978312A>G	NCBI36
NG_029965.1:g.88204A>G , LRG_875:g.88204A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.5336A>G MANE Select	ENSP00000320485.7:p.Glu1779Gly
ENST00000374152.7:c.4187A>G	ENSP00000363267.2:p.Glu1396Gly
ENST00000430799.7:c.4184A>G	ENSP00000390317.3:p.Glu1395Gly
ENST00000466382.2:c.753A>G
ENST00000636219.1:c.4190A>G	ENSP00000489842.1:p.Glu1397Gly
ENST00000637788.1:n.1136A>G
ENST00000324856.11:c.5336A>G	ENSP00000320485.7:p.Glu1779Gly
ENST00000374152.6:c.4187A>G	ENSP00000363267.2:p.Glu1396Gly
ENST00000430799.6:c.2025A>G
ENST00000457599.6:c.4685A>G	ENSP00000387636.2:p.Glu1562Gly
ENST00000466382.1:c.753A>G
ENST00000532781.1:c.834A>G
NM_006015.4:c.5336A>G , LRG_875t1:c.5336A>G	NP_006006.3:p.Glu1779Gly
NM_139135.2:c.4685A>G	NP_624361.1:p.Glu1562Gly
NM_006015.5:c.5336A>G	NP_006006.3:p.Glu1779Gly
NM_139135.3:c.4685A>G	NP_624361.1:p.Glu1562Gly
NM_006015.6:c.5336A>G MANE Select	NP_006006.3:p.Glu1779Gly
NM_139135.4:c.4685A>G	NP_624361.1:p.Glu1562Gly