Canonical Allele Identifier: CA2716116
Gene: CCDC39 HGNC NCBI

Linked Data

ClinVar Variation Id: 2397672
ClinVar RCV Id: RCV004233382
dbSNP Id: rs749794148
ExAC: 3:180377338 G / C
gnomAD v2: 3-180377338-G-C
gnomAD v3: 3-180659550-G-C
gnomAD v4: 3-180659550-G-C
MyVariant Identifiers: chr3:g.180377338G>C (hg19) chr3:g.180659550G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180659550G>C , CM000665.2:g.180659550G>C GRCh38
NC_000003.11:g.180377338G>C , CM000665.1:g.180377338G>C GRCh37
NC_000003.10:g.181860032G>C NCBI36
NG_029581.1:g.24946C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.640C>G MANE Select ENSP00000417960.2:p.Arg214Gly
ENST00000650641.1:n.719C>G
ENST00000650889.1:n.812C>G
ENST00000651046.1:c.640C>G ENSP00000499175.1:p.Arg214Gly
ENST00000651818.1:n.782C>G
ENST00000652024.1:n.731C>G
ENST00000652408.1:n.777C>G
ENST00000442201.6:c.640C>G ENSP00000405708.2:p.Arg214Gly
ENST00000476379.5:c.640C>G ENSP00000417960.1:p.Arg214Gly
NM_181426.1:c.640C>G NP_852091.1:p.Arg214Gly
NM_181426.2:c.640C>G MANE Select NP_852091.1:p.Arg214Gly
Search 100 bp 5'
Search 100 bp 3'