Canonical Allele Identifier: CA339257

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 216140
• ClinVar RCV Id: RCV000200347 ; RCV001781580
• dbSNP Id: rs756235547
• ExAC: 3:180377370 T / C
• gnomAD v2: 3-180377370-T-C
• gnomAD v3: 3-180659582-T-C
• gnomAD v4: 3-180659582-T-C
• MyVariant Identifiers: chr3:g.180377370T>C (hg19) ; chr3:g.180659582T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659582T>C , CM000665.2:g.180659582T>C	GRCh38
NC_000003.11:g.180377370T>C , CM000665.1:g.180377370T>C	GRCh37
NC_000003.10:g.181860064T>C	NCBI36
NG_029581.1:g.24914A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.610-2A>G MANE Select	ENSP00000417960.2:n.610-2A>G
ENST00000650641.1:n.689-2A>G
ENST00000650889.1:n.782-2A>G
ENST00000651046.1:c.610-2A>G	ENSP00000499175.1:n.610-2A>G
ENST00000651818.1:n.752-2A>G
ENST00000652024.1:n.701-2A>G
ENST00000652408.1:n.747-2A>G
ENST00000442201.6:c.610-2A>G	ENSP00000405708.2:n.610-2A>G
ENST00000476379.5:c.610-2A>G	ENSP00000417960.1:n.610-2A>G
NM_181426.1:c.610-2A>G	NP_852091.1:n.610-2A>G
NM_181426.2:c.610-2A>G MANE Select	NP_852091.1:n.610-2A>G