Canonical Allele Identifier: CA10615351
Gene: CCDC39 HGNC NCBI

Linked Data

ClinVar Variation Id: 344283
ClinVar RCV Id: RCV000312971
dbSNP Id: rs886058200
gnomAD v3: 3-180679460-A-G
gnomAD v4: 3-180679460-A-G
MyVariant Identifiers: chr3:g.180397248A>G (hg19) chr3:g.180679460A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180679460A>G , CM000665.2:g.180679460A>G GRCh38
NC_000003.11:g.180397248A>G , CM000665.1:g.180397248A>G GRCh37
NC_000003.10:g.181879942A>G NCBI36
NG_029581.1:g.5036T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.-80T>C MANE Select ENSP00000417960.2:n.-80T>C
ENST00000650889.1:n.262+148T>C
ENST00000651046.1:c.-80T>C ENSP00000499175.1:n.-80T>C
ENST00000651818.1:n.232+148T>C
ENST00000652024.1:n.12T>C
ENST00000652408.1:n.227+148T>C
ENST00000442201.6:c.-80T>C ENSP00000405708.2:n.-80T>C
ENST00000471307.6:c.37-15474T>C ENSP00000418702.2:n.37-15474T>C
ENST00000476379.5:c.-2-78T>C ENSP00000417960.1:n.-2-78T>C
NM_181426.1:c.-80T>C NP_852091.1:n.-80T>C
NM_181426.2:c.-80T>C MANE Select NP_852091.1:n.-80T>C
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