Canonical Allele Identifier: CA19815167

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 2987714
• ClinVar RCV Id: RCV003841833
• dbSNP Id: rs971354921
• gnomAD v2: 1-27105662-C-G
• gnomAD v4: 1-26779171-C-G
• MyVariant Identifiers: chr1:g.27105662C>G (hg19) ; chr1:g.26779171C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779171C>G , CM000663.2:g.26779171C>G	GRCh38
NC_000001.10:g.27105662C>G , CM000663.1:g.27105662C>G	GRCh37
NC_000001.9:g.26978249C>G	NCBI36
NG_029965.1:g.88141C>G , LRG_875:g.88141C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.5273C>G MANE Select	ENSP00000320485.7:p.Pro1758Arg
ENST00000374152.7:c.4124C>G	ENSP00000363267.2:p.Pro1375Arg
ENST00000430799.7:c.4121C>G	ENSP00000390317.3:p.Pro1374Arg
ENST00000466382.2:c.690C>G
ENST00000636219.1:c.4127C>G	ENSP00000489842.1:p.Pro1376Arg
ENST00000637788.1:n.1073C>G
ENST00000324856.11:c.5273C>G	ENSP00000320485.7:p.Pro1758Arg
ENST00000374152.6:c.4124C>G	ENSP00000363267.2:p.Pro1375Arg
ENST00000430799.6:c.1962C>G
ENST00000457599.6:c.4622C>G	ENSP00000387636.2:p.Pro1541Arg
ENST00000466382.1:c.690C>G
ENST00000532781.1:c.771C>G
NM_006015.4:c.5273C>G , LRG_875t1:c.5273C>G	NP_006006.3:p.Pro1758Arg
NM_139135.2:c.4622C>G	NP_624361.1:p.Pro1541Arg
NM_006015.5:c.5273C>G	NP_006006.3:p.Pro1758Arg
NM_139135.3:c.4622C>G	NP_624361.1:p.Pro1541Arg
NM_006015.6:c.5273C>G MANE Select	NP_006006.3:p.Pro1758Arg
NM_139135.4:c.4622C>G	NP_624361.1:p.Pro1541Arg