Canonical Allele Identifier: CA2715862

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 344264
• ClinVar RCV Id: RCV000380806 ; RCV003114503
• dbSNP Id: rs371164022
• ExAC: 3:180359822 C / T
• gnomAD v2: 3-180359822-C-T
• gnomAD v3: 3-180642034-C-T
• gnomAD v4: 3-180642034-C-T
• COSMIC: COSM1421103 ; COSM1421104
• MyVariant Identifiers: chr3:g.180359822C>T (hg19) ; chr3:g.180642034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180642034C>T , CM000665.2:g.180642034C>T	GRCh38
NC_000003.11:g.180359822C>T , CM000665.1:g.180359822C>T	GRCh37
NC_000003.10:g.181842516C>T	NCBI36
NG_029581.1:g.42462G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.1833G>A MANE Select	ENSP00000417960.2:p.Ala611=
ENST00000650641.1:n.1720G>A
ENST00000651046.1:c.1641G>A	ENSP00000499175.1:p.Ala547=
ENST00000651922.1:n.1158G>A
ENST00000652408.1:n.1970G>A
ENST00000442201.6:c.1833G>A	ENSP00000405708.2:p.Ala611=
ENST00000476379.5:c.1833G>A	ENSP00000417960.1:p.Ala611=
NM_181426.1:c.1833G>A	NP_852091.1:p.Ala611=
NM_181426.2:c.1833G>A MANE Select	NP_852091.1:p.Ala611=