Canonical Allele Identifier: CA548337185
Gene: CCDC39 HGNC NCBI

Linked Data

ClinVar Variation Id: 3015829
ClinVar RCV Id: RCV003873916
dbSNP Id: rs1429840152
gnomAD v2: 3-180377229-A-G
gnomAD v3: 3-180659441-A-G
gnomAD v4: 3-180659441-A-G
MyVariant Identifiers: chr3:g.180377229A>G (hg19) chr3:g.180659441A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180659441A>G , CM000665.2:g.180659441A>G GRCh38
NC_000003.11:g.180377229A>G , CM000665.1:g.180377229A>G GRCh37
NC_000003.10:g.181859923A>G NCBI36
NG_029581.1:g.25055T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.738+11T>C MANE Select ENSP00000417960.2:n.738+11T>C
ENST00000650641.1:n.817+11T>C
ENST00000650889.1:n.910+11T>C
ENST00000651046.1:c.738+11T>C ENSP00000499175.1:n.738+11T>C
ENST00000651818.1:n.880+11T>C
ENST00000652024.1:n.829+11T>C
ENST00000652408.1:n.875+11T>C
ENST00000442201.6:c.738+11T>C ENSP00000405708.2:n.738+11T>C
ENST00000476379.5:c.738+11T>C ENSP00000417960.1:n.738+11T>C
NM_181426.1:c.738+11T>C NP_852091.1:n.738+11T>C
NM_181426.2:c.738+11T>C MANE Select NP_852091.1:n.738+11T>C
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