Canonical Allele Identifier: CA2716073

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 344276
• ClinVar RCV Id: RCV000385217 ; RCV002429307
• dbSNP Id: rs752180569
• ExAC: 3:180372659 C / T
• gnomAD v2: 3-180372659-C-T
• gnomAD v3: 3-180654871-C-T
• gnomAD v4: 3-180654871-C-T
• COSMIC: COSM729721 ; COSM729722
• MyVariant Identifiers: chr3:g.180372659C>T (hg19) ; chr3:g.180654871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180654871C>T , CM000665.2:g.180654871C>T	GRCh38
NC_000003.11:g.180372659C>T , CM000665.1:g.180372659C>T	GRCh37
NC_000003.10:g.181855353C>T	NCBI36
NG_029581.1:g.29625G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.821G>A MANE Select	ENSP00000417960.2:p.Gly274Glu
ENST00000650641.1:n.818-2605G>A
ENST00000650889.1:n.993G>A
ENST00000651046.1:c.739-2605G>A	ENSP00000499175.1:n.739-2605G>A
ENST00000651818.1:n.881-2605G>A
ENST00000652024.1:n.830-2605G>A
ENST00000652408.1:n.958G>A
ENST00000442201.6:c.821G>A	ENSP00000405708.2:p.Gly274Glu
ENST00000476379.5:c.821G>A	ENSP00000417960.1:p.Gly274Glu
NM_181426.1:c.821G>A	NP_852091.1:p.Gly274Glu
NM_181426.2:c.821G>A MANE Select	NP_852091.1:p.Gly274Glu