Canonical Allele Identifier: CA2716142

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 455025
• ClinVar RCV Id: RCV000551213 ; RCV001150115
• dbSNP Id: rs375301243
• ExAC: 3:180377527 A / G
• gnomAD v2: 3-180377527-A-G
• gnomAD v3: 3-180659739-A-G
• gnomAD v4: 3-180659739-A-G
• MyVariant Identifiers: chr3:g.180377527A>G (hg19) ; chr3:g.180659739A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659739A>G , CM000665.2:g.180659739A>G	GRCh38
NC_000003.11:g.180377527A>G , CM000665.1:g.180377527A>G	GRCh37
NC_000003.10:g.181860221A>G	NCBI36
NG_029581.1:g.24757T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.547T>C MANE Select	ENSP00000417960.2:p.Leu183=
ENST00000650641.1:n.626T>C
ENST00000650889.1:n.719T>C
ENST00000651046.1:c.547T>C	ENSP00000499175.1:p.Leu183=
ENST00000651818.1:n.689T>C
ENST00000652024.1:n.638T>C
ENST00000652408.1:n.684T>C
ENST00000442201.6:c.547T>C	ENSP00000405708.2:p.Leu183=
ENST00000476379.5:c.547T>C	ENSP00000417960.1:p.Leu183=
NM_181426.1:c.547T>C	NP_852091.1:p.Leu183=
NM_181426.2:c.547T>C MANE Select	NP_852091.1:p.Leu183=