Canonical Allele Identifier: CA706588
Gene: ARID1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1241257
ClinVar RCV Id: RCV001643740 RCV002260239
dbSNP Id: rs768590350
ExAC: 1:27023287 G / C
gnomAD v2: 1-27023287-G-C
gnomAD v3: 1-26696796-G-C
gnomAD v4: 1-26696796-G-C
MyVariant Identifiers: chr1:g.27023287G>C (hg19) chr1:g.26696796G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26696796G>C , CM000663.2:g.26696796G>C GRCh38
NC_000001.10:g.27023287G>C , CM000663.1:g.27023287G>C GRCh37
NC_000001.9:g.26895874G>C NCBI36
NG_029965.1:g.5766G>C , LRG_875:g.5766G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324856.13:c.393G>C MANE Select ENSP00000320485.7:p.Gly131=
ENST00000430799.7:c.-13+3179G>C ENSP00000390317.3:n.-13+3179G>C
ENST00000637465.1:c.-13+696G>C ENSP00000490650.1:n.-13+696G>C
ENST00000324856.11:c.393G>C ENSP00000320485.7:p.Gly131=
ENST00000457599.6:c.393G>C ENSP00000387636.2:p.Gly131=
NM_006015.4:c.393G>C , LRG_875t1:c.393G>C NP_006006.3:p.Gly131=
NM_139135.2:c.393G>C NP_624361.1:p.Gly131=
NM_006015.5:c.393G>C NP_006006.3:p.Gly131=
NM_139135.3:c.393G>C NP_624361.1:p.Gly131=
NM_006015.6:c.393G>C MANE Select NP_006006.3:p.Gly131=
NM_139135.4:c.393G>C NP_624361.1:p.Gly131=
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