Canonical Allele Identifier: CA248275

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 199194
• ClinVar RCV Id: RCV000246088 ; RCV000724057 ; RCV002515301
• dbSNP Id: rs200089274
• ExAC: 3:180369326 A / G
• gnomAD v2: 3-180369326-A-G
• gnomAD v3: 3-180651538-A-G
• gnomAD v4: 3-180651538-A-G
• MyVariant Identifiers: chr3:g.180369326A>G (hg19) ; chr3:g.180651538A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180651538A>G , CM000665.2:g.180651538A>G	GRCh38
NC_000003.11:g.180369326A>G , CM000665.1:g.180369326A>G	GRCh37
NC_000003.10:g.181852020A>G	NCBI36
NG_029581.1:g.32958T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.1035-5T>C MANE Select	ENSP00000417960.2:n.1035-5T>C
ENST00000650641.1:n.922-5T>C
ENST00000650889.1:n.1426-5T>C
ENST00000651046.1:c.843-5T>C	ENSP00000499175.1:n.843-5T>C
ENST00000651818.1:n.985-5T>C
ENST00000651922.1:n.360-5T>C
ENST00000652024.1:n.934-5T>C
ENST00000652408.1:n.1172-5T>C
ENST00000442201.6:c.1035-5T>C	ENSP00000405708.2:n.1035-5T>C
ENST00000476379.5:c.1035-5T>C	ENSP00000417960.1:n.1035-5T>C
NM_181426.1:c.1035-5T>C	NP_852091.1:n.1035-5T>C
NM_181426.2:c.1035-5T>C MANE Select	NP_852091.1:n.1035-5T>C