Canonical Allele Identifier: CA2716132
Gene: CCDC39 HGNC NCBI

Linked Data

ClinVar Variation Id: 2875970
ClinVar RCV Id: RCV003654091
dbSNP Id: rs771333687
ExAC: 3:180377468 T / A
gnomAD v2: 3-180377468-T-A
gnomAD v3: 3-180659680-T-A
gnomAD v4: 3-180659680-T-A
MyVariant Identifiers: chr3:g.180377468T>A (hg19) chr3:g.180659680T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180659680T>A , CM000665.2:g.180659680T>A GRCh38
NC_000003.11:g.180377468T>A , CM000665.1:g.180377468T>A GRCh37
NC_000003.10:g.181860162T>A NCBI36
NG_029581.1:g.24816A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.606A>T MANE Select ENSP00000417960.2:p.Ala202=
ENST00000650641.1:n.685A>T
ENST00000650889.1:n.778A>T
ENST00000651046.1:c.606A>T ENSP00000499175.1:p.Ala202=
ENST00000651818.1:n.748A>T
ENST00000652024.1:n.697A>T
ENST00000652408.1:n.743A>T
ENST00000442201.6:c.606A>T ENSP00000405708.2:p.Ala202=
ENST00000476379.5:c.606A>T ENSP00000417960.1:p.Ala202=
NM_181426.1:c.606A>T NP_852091.1:p.Ala202=
NM_181426.2:c.606A>T MANE Select NP_852091.1:p.Ala202=
Search 100 bp 5'
Search 100 bp 3'