Canonical Allele Identifier: CA355302063
Gene: CCDC39 HGNC NCBI

Linked Data

ClinVar Variation Id: 455026
ClinVar RCV Id: RCV000525221
dbSNP Id: rs1445512588
gnomAD v3: 3-180659501-G-A
gnomAD v4: 3-180659501-G-A
MyVariant Identifiers: chr3:g.180377289G>A (hg19) chr3:g.180659501G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180659501G>A , CM000665.2:g.180659501G>A GRCh38
NC_000003.11:g.180377289G>A , CM000665.1:g.180377289G>A GRCh37
NC_000003.10:g.181859983G>A NCBI36
NG_029581.1:g.24995C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.689C>T MANE Select ENSP00000417960.2:p.Thr230Ile
ENST00000650641.1:n.768C>T
ENST00000650889.1:n.861C>T
ENST00000651046.1:c.689C>T ENSP00000499175.1:p.Thr230Ile
ENST00000651818.1:n.831C>T
ENST00000652024.1:n.780C>T
ENST00000652408.1:n.826C>T
ENST00000442201.6:c.689C>T ENSP00000405708.2:p.Thr230Ile
ENST00000476379.5:c.689C>T ENSP00000417960.1:p.Thr230Ile
NM_181426.1:c.689C>T NP_852091.1:p.Thr230Ile
NM_181426.2:c.689C>T MANE Select NP_852091.1:p.Thr230Ile
Search 100 bp 5'
Search 100 bp 3'