Canonical Allele Identifier: CA10531755

Gene: CDR1 LINC00632

Linked Data

• ClinVar Variation Id: 789465
• ClinVar RCV Id: RCV000972100
• dbSNP Id: rs138645302
• ExAC: X:139865862 G / A
• gnomAD v2: X-139865862-G-A
• gnomAD v3: X-140783697-G-A
• gnomAD v4: X-140783697-G-A
• COSMIC: COSM1116170
• MyVariant Identifiers: chrX:g.139865862G>A (hg19) ; chrX:g.140783697G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.140783697G>A , CM000685.2:g.140783697G>A	GRCh38
NC_000023.10:g.139865862G>A , CM000685.1:g.139865862G>A	GRCh37
NC_000023.9:g.139693528G>A	NCBI36
NG_016361.1:g.5862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674533.1:c.670C>T (CDR1)	ENSP00000501885.1:p.Arg224Cys
ENST00000370532.3:c.670C>T	ENSP00000359563.2:p.Arg224Cys
NM_004065.2:c.670C>T (CDR1)	NP_004056.2:p.Arg224Cys
NR_173139.1:n.867G>A (LINC00632)
NR_173140.1:n.974G>A (LINC00632)
NR_173141.1:n.610G>A (LINC00632)
NR_173142.1:n.517G>A (LINC00632)
NR_173143.1:n.384-7305G>A (LINC00632)
NR_173144.1:n.345-7305G>A (LINC00632)