Canonical Allele Identifier: CA2715875

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 242170
• ClinVar RCV Id: RCV000478638 ; RCV000677328 ; RCV000767051 ; RCV001086160 ; RCV003967673
• dbSNP Id: rs140505857
• ExAC: 3:180359874 G / A
• gnomAD v2: 3-180359874-G-A
• gnomAD v3: 3-180642086-G-A
• gnomAD v4: 3-180642086-G-A
• MyVariant Identifiers: chr3:g.180359874G>A (hg19) ; chr3:g.180642086G>A (hg38)
• PubMed: PMID:21131972

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180642086G>A , CM000665.2:g.180642086G>A	GRCh38
NC_000003.11:g.180359874G>A , CM000665.1:g.180359874G>A	GRCh37
NC_000003.10:g.181842568G>A	NCBI36
NG_029581.1:g.42410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.1781C>T MANE Select	ENSP00000417960.2:p.Thr594Ile
ENST00000650641.1:n.1668C>T
ENST00000651046.1:c.1589C>T	ENSP00000499175.1:p.Thr530Ile
ENST00000651922.1:n.1106C>T
ENST00000652408.1:n.1918C>T
ENST00000442201.6:c.1781C>T	ENSP00000405708.2:p.Thr594Ile
ENST00000476379.5:c.1781C>T	ENSP00000417960.1:p.Thr594Ile
NM_181426.1:c.1781C>T	NP_852091.1:p.Thr594Ile
NM_181426.2:c.1781C>T MANE Select	NP_852091.1:p.Thr594Ile