Canonical Allele Identifier: CA2715854

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 242171
• ClinVar RCV Id: RCV000229530 ; RCV001094925 ; RCV003884429
• dbSNP Id: rs200277460
• ExAC: 3:180359790 T / C
• gnomAD v2: 3-180359790-T-C
• gnomAD v3: 3-180642002-T-C
• gnomAD v4: 3-180642002-T-C
• MyVariant Identifiers: chr3:g.180359790T>C (hg19) ; chr3:g.180642002T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180642002T>C , CM000665.2:g.180642002T>C	GRCh38
NC_000003.11:g.180359790T>C , CM000665.1:g.180359790T>C	GRCh37
NC_000003.10:g.181842484T>C	NCBI36
NG_029581.1:g.42494A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.1865A>G MANE Select	ENSP00000417960.2:p.Glu622Gly
ENST00000650641.1:n.1752A>G
ENST00000651046.1:c.1673A>G	ENSP00000499175.1:p.Glu558Gly
ENST00000651922.1:n.1190A>G
ENST00000652408.1:n.2002A>G
ENST00000442201.6:c.1865A>G	ENSP00000405708.2:p.Glu622Gly
ENST00000476379.5:c.1865A>G	ENSP00000417960.1:p.Glu622Gly
NM_181426.1:c.1865A>G	NP_852091.1:p.Glu622Gly
NM_181426.2:c.1865A>G MANE Select	NP_852091.1:p.Glu622Gly