Canonical Allele Identifier: CA233637

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 166806
• ClinVar RCV Id: RCV000250032 ; RCV000827145 ; RCV001082090 ; RCV001145787
• dbSNP Id: rs183413880
• ExAC: 3:180369283 G / A
• gnomAD v2: 3-180369283-G-A
• gnomAD v3: 3-180651495-G-A
• gnomAD v4: 3-180651495-G-A
• MyVariant Identifiers: chr3:g.180369283G>A (hg19) ; chr3:g.180369283_180369284delinsAT (hg19) ; chr3:g.180651495G>A (hg38) ; chr3:g.180651495_180651496delinsAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180651495G>A , CM000665.2:g.180651495G>A	GRCh38
NC_000003.11:g.180369283G>A , CM000665.1:g.180369283G>A	GRCh37
NC_000003.10:g.181851977G>A	NCBI36
NG_029581.1:g.33001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.1073C>T MANE Select	ENSP00000417960.2:p.Thr358Ile
ENST00000650641.1:n.960C>T
ENST00000650889.1:n.1464C>T
ENST00000651046.1:c.881C>T	ENSP00000499175.1:p.Thr294Ile
ENST00000651818.1:n.1023C>T
ENST00000651922.1:n.398C>T
ENST00000652024.1:n.972C>T
ENST00000652408.1:n.1210C>T
ENST00000442201.6:c.1073C>T	ENSP00000405708.2:p.Thr358Ile
ENST00000476379.5:c.1073C>T	ENSP00000417960.1:p.Thr358Ile
NM_181426.1:c.1073C>T	NP_852091.1:p.Thr358Ile
NM_181426.2:c.1073C>T MANE Select	NP_852091.1:p.Thr358Ile