Canonical Allele Identifier: CA2716100
Gene: CCDC39 HGNC NCBI

Linked Data

ClinVar Variation Id: 2958764
ClinVar RCV Id: RCV003816987
dbSNP Id: rs758850119
ExAC: 3:180377248 A / G
gnomAD v2: 3-180377248-A-G
gnomAD v3: 3-180659460-A-G
gnomAD v4: 3-180659460-A-G
MyVariant Identifiers: chr3:g.180377248A>G (hg19) chr3:g.180659460A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180659460A>G , CM000665.2:g.180659460A>G GRCh38
NC_000003.11:g.180377248A>G , CM000665.1:g.180377248A>G GRCh37
NC_000003.10:g.181859942A>G NCBI36
NG_029581.1:g.25036T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.730T>C MANE Select ENSP00000417960.2:p.Cys244Arg
ENST00000650641.1:n.809T>C
ENST00000650889.1:n.902T>C
ENST00000651046.1:c.730T>C ENSP00000499175.1:p.Cys244Arg
ENST00000651818.1:n.872T>C
ENST00000652024.1:n.821T>C
ENST00000652408.1:n.867T>C
ENST00000442201.6:c.730T>C ENSP00000405708.2:p.Cys244Arg
ENST00000476379.5:c.730T>C ENSP00000417960.1:p.Cys244Arg
NM_181426.1:c.730T>C NP_852091.1:p.Cys244Arg
NM_181426.2:c.730T>C MANE Select NP_852091.1:p.Cys244Arg
Search 100 bp 5'
Search 100 bp 3'