Canonical Allele Identifier: CA349473

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 220134
• ClinVar RCV Id: RCV000205312 ; RCV000765714
• dbSNP Id: rs201586263
• ExAC: 3:180337700 T / C
• gnomAD v2: 3-180337700-T-C
• gnomAD v3: 3-180619912-T-C
• gnomAD v4: 3-180619912-T-C
• COSMIC: COSM1738881
• MyVariant Identifiers: chr3:g.180337700T>C (hg19) ; chr3:g.180619912T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180619912T>C , CM000665.2:g.180619912T>C	GRCh38
NC_000003.11:g.180337700T>C , CM000665.1:g.180337700T>C	GRCh37
NC_000003.10:g.181820394T>C	NCBI36
NG_029581.1:g.64584A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.2057A>G MANE Select	ENSP00000417960.2:p.Asn686Ser
ENST00000650641.1:n.1944A>G
ENST00000651046.1:c.1865A>G	ENSP00000499175.1:p.Asn622Ser
ENST00000651922.1:n.1382A>G
ENST00000652010.1:n.1688A>G
ENST00000652408.1:n.2194A>G
ENST00000442201.6:c.2057A>G	ENSP00000405708.2:p.Asn686Ser
ENST00000476379.5:c.1999-547A>G	ENSP00000417960.1:n.1999-547A>G
NM_181426.1:c.2057A>G	NP_852091.1:p.Asn686Ser
NM_181426.2:c.2057A>G MANE Select	NP_852091.1:p.Asn686Ser