Canonical Allele Identifier: CA10531755
Gene: CDR1 HGNC NCBI
LINC00632 HGNC NCBI
ClinVar RCV:
RCV000972100
ClinVar Variation:
789465
COSMIC:
COSM1116170
dbSNP:
138645302
gnomAD v2:
X:139865862 G / A
gnomAD v3:
X:140783697 G / A
gnomAD v4:
chrX-140783697-G-A
Joint Max Group AF 0.02882864 (EAS)
Genomes Max Group AF 0.02458735 (EAS)
Exomes Max Group AF 0.02887236 (EAS)
MyVariant.info:
GRCh38 chrX:g.140783697G>A
GRCh37 chrX:g.139865862G>A
Revel Score:
ENST00000370532 0.020
JSON-LD

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)
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