Canonical Allele Identifier: CA2716066

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 344275
• ClinVar RCV Id: RCV000325833 ; RCV001094896
• dbSNP Id: rs576805965
• ExAC: 3:180372617 C / T
• gnomAD v2: 3-180372617-C-T
• gnomAD v3: 3-180654829-C-T
• gnomAD v4: 3-180654829-C-T
• MyVariant Identifiers: chr3:g.180372617C>T (hg19) ; chr3:g.180654829C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180654829C>T , CM000665.2:g.180654829C>T	GRCh38
NC_000003.11:g.180372617C>T , CM000665.1:g.180372617C>T	GRCh37
NC_000003.10:g.181855311C>T	NCBI36
NG_029581.1:g.29667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.863G>A MANE Select	ENSP00000417960.2:p.Arg288His
ENST00000650641.1:n.818-2563G>A
ENST00000650889.1:n.1035G>A
ENST00000651046.1:c.739-2563G>A	ENSP00000499175.1:n.739-2563G>A
ENST00000651818.1:n.881-2563G>A
ENST00000652024.1:n.830-2563G>A
ENST00000652408.1:n.1000G>A
ENST00000442201.6:c.863G>A	ENSP00000405708.2:p.Arg288His
ENST00000476379.5:c.863G>A	ENSP00000417960.1:p.Arg288His
NM_181426.1:c.863G>A	NP_852091.1:p.Arg288His
NM_181426.2:c.863G>A MANE Select	NP_852091.1:p.Arg288His