Canonical Allele Identifier: CA2716108
Gene: CCDC39 HGNC NCBI

Linked Data

ClinVar Variation Id: 1754942
ClinVar RCV Id: RCV002367104
dbSNP Id: rs774386573
ExAC: 3:180377309 G / T
gnomAD v2: 3-180377309-G-T
gnomAD v3: 3-180659521-G-T
gnomAD v4: 3-180659521-G-T
MyVariant Identifiers: chr3:g.180377309G>T (hg19) chr3:g.180659521G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180659521G>T , CM000665.2:g.180659521G>T GRCh38
NC_000003.11:g.180377309G>T , CM000665.1:g.180377309G>T GRCh37
NC_000003.10:g.181860003G>T NCBI36
NG_029581.1:g.24975C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.669C>A MANE Select ENSP00000417960.2:p.Leu223=
ENST00000650641.1:n.748C>A
ENST00000650889.1:n.841C>A
ENST00000651046.1:c.669C>A ENSP00000499175.1:p.Leu223=
ENST00000651818.1:n.811C>A
ENST00000652024.1:n.760C>A
ENST00000652408.1:n.806C>A
ENST00000442201.6:c.669C>A ENSP00000405708.2:p.Leu223=
ENST00000476379.5:c.669C>A ENSP00000417960.1:p.Leu223=
NM_181426.1:c.669C>A NP_852091.1:p.Leu223=
NM_181426.2:c.669C>A MANE Select NP_852091.1:p.Leu223=
Search 100 bp 5'
Search 100 bp 3'