Canonical Allele Identifier: CA2716270
Gene: CCDC39 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.180679339C>T
GRCh37 chr3:g.180397127C>T
gnomAD v2:
3:180397127 C / T
gnomAD v3:
3:180679339 C / T
gnomAD v4:
chr3-180679339-C-T
Joint Max Group AF 0.00036813 (EAS)
Genomes Max Group AF 0.00050327 (EAS)
Exomes Max Group AF 0.00029301 (EAS)
ClinVar Allele:
289595
ClinVar RCV:
RCV000407605
RCV002520109
ClinVar Variation:
344282
dbSNP:
759103433
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180679339C>T , CM000665.2:g.180679339C>T GRCh38
NC_000003.11:g.180397127C>T , CM000665.1:g.180397127C>T GRCh37
NC_000003.10:g.181879821C>T NCBI36
NG_029581.1:g.5157G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.42G>A MANE Select ENSP00000417960.2:p.Gly14=
ENST00000650641.1:n.121G>A
ENST00000650889.1:n.262+269G>A
ENST00000651046.1:c.42G>A ENSP00000499175.1:p.Gly14=
ENST00000651818.1:n.232+269G>A
ENST00000652024.1:n.133G>A
ENST00000652408.1:n.227+269G>A
ENST00000442201.6:c.42G>A ENSP00000405708.2:p.Gly14=
ENST00000471307.6:c.37-15353G>A ENSP00000418702.2:n.37-15353G>A
ENST00000476379.5:c.42G>A ENSP00000417960.1:p.Gly14=
NM_181426.1:c.42G>A NP_852091.1:p.Gly14=
NM_181426.2:c.42G>A MANE Select NP_852091.1:p.Gly14=
Search 100 bp 5'
Search 100 bp 3'