Canonical Allele Identifier: CA6993928
Gene: CNMD HGNC NCBI
COSMIC:
COSM6049319 (not active)
MyVariant.info:
GRCh38 chr13:g.52703719T>G
GRCh37 chr13:g.53277854T>G
Revel Score:
ENST00000448904 0.239
ENST00000377962 (MANE Select) 0.239
gnomAD v2:
13:53277854 T / G
gnomAD v3:
13:52703719 T / G
gnomAD v4:
chr13-52703719-T-G
Joint Max Group AF 0.00136496 (NFE)
Genomes Max Group AF 0.00107527 (NFE)
Exomes Max Group AF 0.00137111 (NFE)
ClinVar Allele:
3305379
ClinVar RCV:
RCV004439901
ClinVar Variation:
3146515
dbSNP:
143162260
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52703719T>G , CM000675.2:g.52703719T>G GRCh38
NC_000013.10:g.53277854T>G , CM000675.1:g.53277854T>G GRCh37
NC_000013.9:g.52175855T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377962.8:c.881A>C MANE Select ENSP00000367198.3:p.Gln294Pro
ENST00000377962.7:c.881A>C ENSP00000367198.3:p.Gln294Pro
ENST00000448904.6:c.878A>C ENSP00000388576.2:p.Gln293Pro
NM_001011705.1:c.878A>C NP_001011705.1:p.Gln293Pro
NM_007015.2:c.881A>C NP_008946.1:p.Gln294Pro
XM_006719761.2:c.*57A>C XP_006719824.2:n.*57A>C
XM_011534897.1:c.974A>C XP_011533199.1:p.Gln325Pro
XM_011534898.1:c.971A>C XP_011533200.1:p.Gln324Pro
XM_011534899.1:c.860A>C XP_011533201.1:p.Gln287Pro
XM_011534900.1:c.848A>C XP_011533202.1:p.Gln283Pro
XM_011534897.2:c.974A>C XP_011533199.1:p.Gln325Pro
XM_011534898.2:c.971A>C XP_011533200.1:p.Gln324Pro
XM_011534899.2:c.860A>C XP_011533201.1:p.Gln287Pro
XM_011534900.2:c.848A>C XP_011533202.1:p.Gln283Pro
NM_007015.3:c.881A>C MANE Select NP_008946.1:p.Gln294Pro
NM_001011705.2:c.878A>C NP_001011705.1:p.Gln293Pro
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