Canonical Allele Identifier: CA2715968
Gene: CCDC39 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.180648152A>G
GRCh37 chr3:g.180365940A>G
gnomAD v2:
3:180365940 A / G
gnomAD v3:
3:180648152 A / G
gnomAD v4:
chr3-180648152-A-G
Joint Max Group AF 0.0002886 (NFE)
Genomes Max Group AF 0.000124 (NFE)
Exomes Max Group AF 0.00029416 (NFE)
ClinVar RCV:
RCV000343218
RCV002057868
ClinVar Variation:
344269
dbSNP:
369141426
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180648152A>G , CM000665.2:g.180648152A>G GRCh38
NC_000003.11:g.180365940A>G , CM000665.1:g.180365940A>G GRCh37
NC_000003.10:g.181848634A>G NCBI36
NG_029581.1:g.36344T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.1362+13T>C MANE Select ENSP00000417960.2:n.1362+13T>C
ENST00000650641.1:n.1249+13T>C
ENST00000650889.1:n.1753+13T>C
ENST00000651046.1:c.1170+13T>C ENSP00000499175.1:n.1170+13T>C
ENST00000651818.1:n.1312+13T>C
ENST00000651922.1:n.687+13T>C
ENST00000652024.1:n.1261+13T>C
ENST00000652408.1:n.1499+13T>C
ENST00000442201.6:c.1362+13T>C ENSP00000405708.2:n.1362+13T>C
ENST00000476379.5:c.1362+13T>C ENSP00000417960.1:n.1362+13T>C
NM_181426.1:c.1362+13T>C NP_852091.1:n.1362+13T>C
NM_181426.2:c.1362+13T>C MANE Select NP_852091.1:n.1362+13T>C
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