Canonical Allele Identifier: CA339184667

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 1336461
• ClinVar RCV Id: RCV001817416
• dbSNP Id: rs1557619767
• gnomAD v2: 1-27105694-C-G
• gnomAD v3: 1-26779203-C-G
• gnomAD v4: 1-26779203-C-G
• MyVariant Identifiers: chr1:g.27105694C>G (hg19) ; chr1:g.26779203C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779203C>G , CM000663.2:g.26779203C>G	GRCh38
NC_000001.10:g.27105694C>G , CM000663.1:g.27105694C>G	GRCh37
NC_000001.9:g.26978281C>G	NCBI36
NG_029965.1:g.88173C>G , LRG_875:g.88173C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.5305C>G MANE Select	ENSP00000320485.7:p.Leu1769Val
ENST00000374152.7:c.4156C>G	ENSP00000363267.2:p.Leu1386Val
ENST00000430799.7:c.4153C>G	ENSP00000390317.3:p.Leu1385Val
ENST00000466382.2:c.722C>G
ENST00000636219.1:c.4159C>G	ENSP00000489842.1:p.Leu1387Val
ENST00000637788.1:n.1105C>G
ENST00000324856.11:c.5305C>G	ENSP00000320485.7:p.Leu1769Val
ENST00000374152.6:c.4156C>G	ENSP00000363267.2:p.Leu1386Val
ENST00000430799.6:c.1994C>G
ENST00000457599.6:c.4654C>G	ENSP00000387636.2:p.Leu1552Val
ENST00000466382.1:c.722C>G
ENST00000532781.1:c.803C>G
NM_006015.4:c.5305C>G , LRG_875t1:c.5305C>G	NP_006006.3:p.Leu1769Val
NM_139135.2:c.4654C>G	NP_624361.1:p.Leu1552Val
NM_006015.5:c.5305C>G	NP_006006.3:p.Leu1769Val
NM_139135.3:c.4654C>G	NP_624361.1:p.Leu1552Val
NM_006015.6:c.5305C>G MANE Select	NP_006006.3:p.Leu1769Val
NM_139135.4:c.4654C>G	NP_624361.1:p.Leu1552Val