Canonical Allele Identifier: CA2716110
Gene: CCDC39 HGNC NCBI

Linked Data

ClinVar Variation Id: 2700688
ClinVar RCV Id: RCV003536237
dbSNP Id: rs771958857
ExAC: 3:180377312 T / C
gnomAD v2: 3-180377312-T-C
gnomAD v4: 3-180659524-T-C
MyVariant Identifiers: chr3:g.180377312T>C (hg19) chr3:g.180659524T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180659524T>C , CM000665.2:g.180659524T>C GRCh38
NC_000003.11:g.180377312T>C , CM000665.1:g.180377312T>C GRCh37
NC_000003.10:g.181860006T>C NCBI36
NG_029581.1:g.24972A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.666A>G MANE Select ENSP00000417960.2:p.Glu222=
ENST00000650641.1:n.745A>G
ENST00000650889.1:n.838A>G
ENST00000651046.1:c.666A>G ENSP00000499175.1:p.Glu222=
ENST00000651818.1:n.808A>G
ENST00000652024.1:n.757A>G
ENST00000652408.1:n.803A>G
ENST00000442201.6:c.666A>G ENSP00000405708.2:p.Glu222=
ENST00000476379.5:c.666A>G ENSP00000417960.1:p.Glu222=
NM_181426.1:c.666A>G NP_852091.1:p.Glu222=
NM_181426.2:c.666A>G MANE Select NP_852091.1:p.Glu222=
Search 100 bp 5'
Search 100 bp 3'