Canonical Allele Identifier: CA338429

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 31067
• ClinVar RCV Id: RCV000024061 ; RCV000199155 ; RCV001092443 ; RCV001327942 ; RCV003914861
• dbSNP Id: rs397515392
• ExAC: 3:180379648 C / G
• gnomAD v2: 3-180379648-C-G
• gnomAD v3: 3-180661860-C-G
• gnomAD v4: 3-180661860-C-G
• MyVariant Identifiers: chr3:g.180379648C>G (hg19) ; chr3:g.180661860C>G (hg38)
• PubMed: PMID:20301301 ; PMID:21131972

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180661860C>G , CM000665.2:g.180661860C>G	GRCh38
NC_000003.11:g.180379648C>G , CM000665.1:g.180379648C>G	GRCh37
NC_000003.10:g.181862342C>G	NCBI36
NG_029581.1:g.22636G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.357+1G>C MANE Select	ENSP00000417960.2:n.357+1G>C
ENST00000650641.1:n.436+1G>C
ENST00000650889.1:n.529+1G>C
ENST00000651046.1:c.357+1G>C	ENSP00000499175.1:n.357+1G>C
ENST00000651818.1:n.499+1G>C
ENST00000652024.1:n.448+1G>C
ENST00000652408.1:n.494+1G>C
ENST00000442201.6:c.357+1G>C	ENSP00000405708.2:n.357+1G>C
ENST00000476379.5:c.357+1G>C	ENSP00000417960.1:n.357+1G>C
NM_181426.1:c.357+1G>C	NP_852091.1:n.357+1G>C
NM_181426.2:c.357+1G>C MANE Select	NP_852091.1:n.357+1G>C