Canonical Allele Identifier: CA2715989

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 344271
• ClinVar RCV Id: RCV000404264 ; RCV000601626 ; RCV001094814
• dbSNP Id: rs147383873
• ExAC: 3:180366117 C / A
• gnomAD v2: 3-180366117-C-A
• gnomAD v3: 3-180648329-C-A
• gnomAD v4: 3-180648329-C-A
• MyVariant Identifiers: chr3:g.180366117C>A (hg19) ; chr3:g.180648329C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180648329C>A , CM000665.2:g.180648329C>A	GRCh38
NC_000003.11:g.180366117C>A , CM000665.1:g.180366117C>A	GRCh37
NC_000003.10:g.181848811C>A	NCBI36
NG_029581.1:g.36167G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.1198G>T MANE Select	ENSP00000417960.2:p.Gly400Cys
ENST00000650641.1:n.1085G>T
ENST00000650889.1:n.1589G>T
ENST00000651046.1:c.1006G>T	ENSP00000499175.1:p.Gly336Cys
ENST00000651818.1:n.1148G>T
ENST00000651922.1:n.523G>T
ENST00000652024.1:n.1097G>T
ENST00000652408.1:n.1335G>T
ENST00000442201.6:c.1198G>T	ENSP00000405708.2:p.Gly400Cys
ENST00000476379.5:c.1198G>T	ENSP00000417960.1:p.Gly400Cys
NM_181426.1:c.1198G>T	NP_852091.1:p.Gly400Cys
NM_181426.2:c.1198G>T MANE Select	NP_852091.1:p.Gly400Cys