Canonical Allele Identifier: CA13182145
Gene: CCDC3 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.12899157T>C
GRCh37 chr10:g.12941157T>C
gnomAD v2:
10:12941157 T / C
gnomAD v3:
10:12899157 T / C
gnomAD v4:
chr10-12899157-T-C
Joint Max Group AF 0.40811192 (EAS)
Genomes Max Group AF 0.40811192 (EAS)
ClinVar RCV:
RCV000758254
ClinVar Variation:
619294
dbSNP:
4748011
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12899157T>C , CM000672.2:g.12899157T>C GRCh38
NC_000010.10:g.12941157T>C , CM000672.1:g.12941157T>C GRCh37
NC_000010.9:g.12981163T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378825.5:c.550-478A>G MANE Select ENSP00000368102.3:n.550-478A>G
ENST00000378825.4:c.550-478A>G ENSP00000368102.3:n.550-478A>G
ENST00000378839.1:c.175-478A>G ENSP00000368116.1:n.175-478A>G
NM_001282658.1:c.175-478A>G NP_001269587.1:n.175-478A>G
NM_031455.3:c.550-478A>G NP_113643.1:n.550-478A>G
NM_031455.4:c.550-478A>G MANE Select NP_113643.1:n.550-478A>G
NM_001282658.2:c.175-478A>G NP_001269587.1:n.175-478A>G
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