Canonical Allele Identifier: CA355301980

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 2722548
• ClinVar RCV Id: RCV003537968
• MyVariant Identifiers: chr3:g.180377272T>A (hg19) ; chr3:g.180659484T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659484T>A , CM000665.2:g.180659484T>A	GRCh38
NC_000003.11:g.180377272T>A , CM000665.1:g.180377272T>A	GRCh37
NC_000003.10:g.181859966T>A	NCBI36
NG_029581.1:g.25012A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.706A>T MANE Select	ENSP00000417960.2:p.Lys236Ter
ENST00000650641.1:n.785A>T
ENST00000650889.1:n.878A>T
ENST00000651046.1:c.706A>T	ENSP00000499175.1:p.Lys236Ter
ENST00000651818.1:n.848A>T
ENST00000652024.1:n.797A>T
ENST00000652408.1:n.843A>T
ENST00000442201.6:c.706A>T	ENSP00000405708.2:p.Lys236Ter
ENST00000476379.5:c.706A>T	ENSP00000417960.1:p.Lys236Ter
NM_181426.1:c.706A>T	NP_852091.1:p.Lys236Ter
NM_181426.2:c.706A>T MANE Select	NP_852091.1:p.Lys236Ter