Canonical Allele Identifier: CA355299226

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 455007
• ClinVar RCV Id: RCV000534994 ; RCV000729528
• dbSNP Id: rs1210953680
• gnomAD v2: 3-180369949-A-T
• gnomAD v4: 3-180652161-A-T
• MyVariant Identifiers: chr3:g.180369949A>T (hg19) ; chr3:g.180652161A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180652161A>T , CM000665.2:g.180652161A>T	GRCh38
NC_000003.11:g.180369949A>T , CM000665.1:g.180369949A>T	GRCh37
NC_000003.10:g.181852643A>T	NCBI36
NG_029581.1:g.32335T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.1034+2T>A MANE Select	ENSP00000417960.2:n.1034+2T>A
ENST00000650641.1:n.921+2T>A
ENST00000650889.1:n.1425+2T>A
ENST00000651046.1:c.842+2T>A	ENSP00000499175.1:n.842+2T>A
ENST00000651818.1:n.984+2T>A
ENST00000651922.1:n.359+2T>A
ENST00000652024.1:n.933+2T>A
ENST00000652408.1:n.1171+2T>A
ENST00000442201.6:c.1034+2T>A	ENSP00000405708.2:n.1034+2T>A
ENST00000476379.5:c.1034+2T>A	ENSP00000417960.1:n.1034+2T>A
NM_181426.1:c.1034+2T>A	NP_852091.1:n.1034+2T>A
NM_181426.2:c.1034+2T>A MANE Select	NP_852091.1:n.1034+2T>A