Canonical Allele Identifier: CA2716059

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 262977
• ClinVar RCV Id: RCV000246808 ; RCV000370071 ; RCV001094894
• dbSNP Id: rs201684898
• ExAC: 3:180372580 A / T
• gnomAD v2: 3-180372580-A-T
• gnomAD v3: 3-180654792-A-T
• gnomAD v4: 3-180654792-A-T
• MyVariant Identifiers: chr3:g.180372580A>T (hg19) ; chr3:g.180654792A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180654792A>T , CM000665.2:g.180654792A>T	GRCh38
NC_000003.11:g.180372580A>T , CM000665.1:g.180372580A>T	GRCh37
NC_000003.10:g.181855274A>T	NCBI36
NG_029581.1:g.29704T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.900T>A MANE Select	ENSP00000417960.2:p.His300Gln
ENST00000650641.1:n.818-2526T>A
ENST00000650889.1:n.1072T>A
ENST00000651046.1:c.739-2526T>A	ENSP00000499175.1:n.739-2526T>A
ENST00000651818.1:n.881-2526T>A
ENST00000652024.1:n.830-2526T>A
ENST00000652408.1:n.1037T>A
ENST00000442201.6:c.900T>A	ENSP00000405708.2:p.His300Gln
ENST00000476379.5:c.900T>A	ENSP00000417960.1:p.His300Gln
NM_181426.1:c.900T>A	NP_852091.1:p.His300Gln
NM_181426.2:c.900T>A MANE Select	NP_852091.1:p.His300Gln