Canonical Allele Identifier: CA2716180

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 344279
• ClinVar RCV Id: RCV000335489 ; RCV002057870
• dbSNP Id: rs201923286
• ExAC: 3:180378478 C / T
• gnomAD v2: 3-180378478-C-T
• gnomAD v3: 3-180660690-C-T
• gnomAD v4: 3-180660690-C-T
• MyVariant Identifiers: chr3:g.180378478C>T (hg19) ; chr3:g.180660690C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180660690C>T , CM000665.2:g.180660690C>T	GRCh38
NC_000003.11:g.180378478C>T , CM000665.1:g.180378478C>T	GRCh37
NC_000003.10:g.181861172C>T	NCBI36
NG_029581.1:g.23806G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.396G>A MANE Select	ENSP00000417960.2:p.Leu132=
ENST00000650641.1:n.475G>A
ENST00000650889.1:n.568G>A
ENST00000651046.1:c.396G>A	ENSP00000499175.1:p.Leu132=
ENST00000651818.1:n.538G>A
ENST00000652024.1:n.487G>A
ENST00000652408.1:n.533G>A
ENST00000442201.6:c.396G>A	ENSP00000405708.2:p.Leu132=
ENST00000476379.5:c.396G>A	ENSP00000417960.1:p.Leu132=
NM_181426.1:c.396G>A	NP_852091.1:p.Leu132=
NM_181426.2:c.396G>A MANE Select	NP_852091.1:p.Leu132=