Canonical Allele Identifier: CA2716064

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 344274
• ClinVar RCV Id: RCV000270726 ; RCV001094895 ; RCV002259338 ; RCV003972455
• dbSNP Id: rs61733577
• ExAC: 3:180372600 T / C
• gnomAD v2: 3-180372600-T-C
• gnomAD v3: 3-180654812-T-C
• gnomAD v4: 3-180654812-T-C
• MyVariant Identifiers: chr3:g.180372600T>C (hg19) ; chr3:g.180654812T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180654812T>C , CM000665.2:g.180654812T>C	GRCh38
NC_000003.11:g.180372600T>C , CM000665.1:g.180372600T>C	GRCh37
NC_000003.10:g.181855294T>C	NCBI36
NG_029581.1:g.29684A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.880A>G MANE Select	ENSP00000417960.2:p.Arg294Gly
ENST00000650641.1:n.818-2546A>G
ENST00000650889.1:n.1052A>G
ENST00000651046.1:c.739-2546A>G	ENSP00000499175.1:n.739-2546A>G
ENST00000651818.1:n.881-2546A>G
ENST00000652024.1:n.830-2546A>G
ENST00000652408.1:n.1017A>G
ENST00000442201.6:c.880A>G	ENSP00000405708.2:p.Arg294Gly
ENST00000476379.5:c.880A>G	ENSP00000417960.1:p.Arg294Gly
NM_181426.1:c.880A>G	NP_852091.1:p.Arg294Gly
NM_181426.2:c.880A>G MANE Select	NP_852091.1:p.Arg294Gly