Canonical Allele Identifier: CA2716270

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 344282
• ClinVar RCV Id: RCV000407605 ; RCV002520109
• dbSNP Id: rs759103433
• ExAC: 3:180397127 C / T
• gnomAD v2: 3-180397127-C-T
• gnomAD v3: 3-180679339-C-T
• gnomAD v4: 3-180679339-C-T
• MyVariant Identifiers: chr3:g.180397127C>T (hg19) ; chr3:g.180679339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180679339C>T , CM000665.2:g.180679339C>T	GRCh38
NC_000003.11:g.180397127C>T , CM000665.1:g.180397127C>T	GRCh37
NC_000003.10:g.181879821C>T	NCBI36
NG_029581.1:g.5157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.42G>A MANE Select	ENSP00000417960.2:p.Gly14=
ENST00000650641.1:n.121G>A
ENST00000650889.1:n.262+269G>A
ENST00000651046.1:c.42G>A	ENSP00000499175.1:p.Gly14=
ENST00000651818.1:n.232+269G>A
ENST00000652024.1:n.133G>A
ENST00000652408.1:n.227+269G>A
ENST00000442201.6:c.42G>A	ENSP00000405708.2:p.Gly14=
ENST00000471307.6:c.37-15353G>A	ENSP00000418702.2:n.37-15353G>A
ENST00000476379.5:c.42G>A	ENSP00000417960.1:p.Gly14=
NM_181426.1:c.42G>A	NP_852091.1:p.Gly14=
NM_181426.2:c.42G>A MANE Select	NP_852091.1:p.Gly14=