Canonical Allele Identifier: CA706577

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 434314
• ClinVar RCV Id: RCV000503870
• dbSNP Id: rs752026201
• ExAC: 1:27023162 A / G
• gnomAD v2: 1-27023162-A-G
• gnomAD v3: 1-26696671-A-G
• gnomAD v4: 1-26696671-A-G
• COSMIC: COSM6389743
• MyVariant Identifiers: chr1:g.27023162A>G (hg19) ; chr1:g.26696671A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696671A>G , CM000663.2:g.26696671A>G	GRCh38
NC_000001.10:g.27023162A>G , CM000663.1:g.27023162A>G	GRCh37
NC_000001.9:g.26895749A>G	NCBI36
NG_029965.1:g.5641A>G , LRG_875:g.5641A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324856.13:c.268A>G MANE Select	ENSP00000320485.7:p.Ser90Gly
ENST00000430799.7:c.-13+3054A>G	ENSP00000390317.3:n.-13+3054A>G
ENST00000637465.1:c.-13+571A>G	ENSP00000490650.1:n.-13+571A>G
ENST00000324856.11:c.268A>G	ENSP00000320485.7:p.Ser90Gly
ENST00000457599.6:c.268A>G	ENSP00000387636.2:p.Ser90Gly
NM_006015.4:c.268A>G , LRG_875t1:c.268A>G	NP_006006.3:p.Ser90Gly
NM_139135.2:c.268A>G	NP_624361.1:p.Ser90Gly
NM_006015.5:c.268A>G	NP_006006.3:p.Ser90Gly
NM_139135.3:c.268A>G	NP_624361.1:p.Ser90Gly
NM_006015.6:c.268A>G MANE Select	NP_006006.3:p.Ser90Gly
NM_139135.4:c.268A>G	NP_624361.1:p.Ser90Gly