Canonical Allele Identifier: CA2715865

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 344265
• ClinVar RCV Id: RCV000291362 ; RCV001094926
• dbSNP Id: rs199503571
• ExAC: 3:180359837 A / G
• gnomAD v2: 3-180359837-A-G
• gnomAD v3: 3-180642049-A-G
• gnomAD v4: 3-180642049-A-G
• MyVariant Identifiers: chr3:g.180359837A>G (hg19) ; chr3:g.180642049A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180642049A>G , CM000665.2:g.180642049A>G	GRCh38
NC_000003.11:g.180359837A>G , CM000665.1:g.180359837A>G	GRCh37
NC_000003.10:g.181842531A>G	NCBI36
NG_029581.1:g.42447T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.1818T>C MANE Select	ENSP00000417960.2:p.His606=
ENST00000650641.1:n.1705T>C
ENST00000651046.1:c.1626T>C	ENSP00000499175.1:p.His542=
ENST00000651922.1:n.1143T>C
ENST00000652408.1:n.1955T>C
ENST00000442201.6:c.1818T>C	ENSP00000405708.2:p.His606=
ENST00000476379.5:c.1818T>C	ENSP00000417960.1:p.His606=
NM_181426.1:c.1818T>C	NP_852091.1:p.His606=
NM_181426.2:c.1818T>C MANE Select	NP_852091.1:p.His606=