Canonical Allele Identifier: CA2715968

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 344269
• ClinVar RCV Id: RCV000343218 ; RCV002057868
• dbSNP Id: rs369141426
• ExAC: 3:180365940 A / G
• gnomAD v2: 3-180365940-A-G
• gnomAD v3: 3-180648152-A-G
• gnomAD v4: 3-180648152-A-G
• MyVariant Identifiers: chr3:g.180365940A>G (hg19) ; chr3:g.180648152A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180648152A>G , CM000665.2:g.180648152A>G	GRCh38
NC_000003.11:g.180365940A>G , CM000665.1:g.180365940A>G	GRCh37
NC_000003.10:g.181848634A>G	NCBI36
NG_029581.1:g.36344T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.1362+13T>C MANE Select	ENSP00000417960.2:n.1362+13T>C
ENST00000650641.1:n.1249+13T>C
ENST00000650889.1:n.1753+13T>C
ENST00000651046.1:c.1170+13T>C	ENSP00000499175.1:n.1170+13T>C
ENST00000651818.1:n.1312+13T>C
ENST00000651922.1:n.687+13T>C
ENST00000652024.1:n.1261+13T>C
ENST00000652408.1:n.1499+13T>C
ENST00000442201.6:c.1362+13T>C	ENSP00000405708.2:n.1362+13T>C
ENST00000476379.5:c.1362+13T>C	ENSP00000417960.1:n.1362+13T>C
NM_181426.1:c.1362+13T>C	NP_852091.1:n.1362+13T>C
NM_181426.2:c.1362+13T>C MANE Select	NP_852091.1:n.1362+13T>C