Canonical Allele Identifier: CA16611181
Gene: CCDC39 HGNC NCBI

Linked Data

ClinVar Variation Id: 410378
ClinVar RCV Id: RCV000477112 RCV003322774 RCV004525933
dbSNP Id: rs577069249
gnomAD v2: 3-180367928-T-C
gnomAD v3: 3-180650140-T-C
gnomAD v4: 3-180650140-T-C
MyVariant Identifiers: chr3:g.180367928T>C (hg19) chr3:g.180650140T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180650140T>C , CM000665.2:g.180650140T>C GRCh38
NC_000003.11:g.180367928T>C , CM000665.1:g.180367928T>C GRCh37
NC_000003.10:g.181850622T>C NCBI36
NG_029581.1:g.34356A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000476379.6:c.1167+1261A>G MANE Select ENSP00000417960.2:n.1167+1261A>G
ENST00000650641.1:n.1054+1261A>G
ENST00000650889.1:n.1558+1261A>G
ENST00000651046.1:c.975+1261A>G ENSP00000499175.1:n.975+1261A>G
ENST00000651818.1:n.1117+1261A>G
ENST00000651922.1:n.492+1261A>G
ENST00000652024.1:n.1066+1261A>G
ENST00000652408.1:n.1304+1261A>G
ENST00000442201.6:c.1167+1261A>G ENSP00000405708.2:n.1167+1261A>G
ENST00000476379.5:c.1167+1261A>G ENSP00000417960.1:n.1167+1261A>G
NM_181426.1:c.1167+1261A>G NP_852091.1:n.1167+1261A>G
NM_181426.2:c.1167+1261A>G MANE Select NP_852091.1:n.1167+1261A>G
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