Canonical Allele Identifier: CA707669

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 446064
• ClinVar RCV Id: RCV000514653 ; RCV002259980
• dbSNP Id: rs187631645
• ExAC: 1:27105700 C / T
• gnomAD v2: 1-27105700-C-T
• gnomAD v3: 1-26779209-C-T
• gnomAD v4: 1-26779209-C-T
• MyVariant Identifiers: chr1:g.27105700C>T (hg19) ; chr1:g.26779209C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779209C>T , CM000663.2:g.26779209C>T	GRCh38
NC_000001.10:g.27105700C>T , CM000663.1:g.27105700C>T	GRCh37
NC_000001.9:g.26978287C>T	NCBI36
NG_029965.1:g.88179C>T , LRG_875:g.88179C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.5311C>T MANE Select	ENSP00000320485.7:p.Pro1771Ser
ENST00000374152.7:c.4162C>T	ENSP00000363267.2:p.Pro1388Ser
ENST00000430799.7:c.4159C>T	ENSP00000390317.3:p.Pro1387Ser
ENST00000466382.2:c.728C>T
ENST00000636219.1:c.4165C>T	ENSP00000489842.1:p.Pro1389Ser
ENST00000637788.1:n.1111C>T
ENST00000324856.11:c.5311C>T	ENSP00000320485.7:p.Pro1771Ser
ENST00000374152.6:c.4162C>T	ENSP00000363267.2:p.Pro1388Ser
ENST00000430799.6:c.2000C>T
ENST00000457599.6:c.4660C>T	ENSP00000387636.2:p.Pro1554Ser
ENST00000466382.1:c.728C>T
ENST00000532781.1:c.809C>T
NM_006015.4:c.5311C>T , LRG_875t1:c.5311C>T	NP_006006.3:p.Pro1771Ser
NM_139135.2:c.4660C>T	NP_624361.1:p.Pro1554Ser
NM_006015.5:c.5311C>T	NP_006006.3:p.Pro1771Ser
NM_139135.3:c.4660C>T	NP_624361.1:p.Pro1554Ser
NM_006015.6:c.5311C>T MANE Select	NP_006006.3:p.Pro1771Ser
NM_139135.4:c.4660C>T	NP_624361.1:p.Pro1554Ser