Canonical Allele Identifier: CA2716109
Gene: CCDC39 HGNC NCBI

Linked Data

dbSNP Id: rs759369489
ExAC: 3:180377310 A / C
gnomAD v2: 3-180377310-A-C
gnomAD v3: 3-180659522-A-C
gnomAD v4: 3-180659522-A-C
MyVariant Identifiers: chr3:g.180377310A>C (hg19) chr3:g.180659522A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180659522A>C , CM000665.2:g.180659522A>C GRCh38
NC_000003.11:g.180377310A>C , CM000665.1:g.180377310A>C GRCh37
NC_000003.10:g.181860004A>C NCBI36
NG_029581.1:g.24974T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.668T>G MANE Select ENSP00000417960.2:p.Leu223Arg
ENST00000650641.1:n.747T>G
ENST00000650889.1:n.840T>G
ENST00000651046.1:c.668T>G ENSP00000499175.1:p.Leu223Arg
ENST00000651818.1:n.810T>G
ENST00000652024.1:n.759T>G
ENST00000652408.1:n.805T>G
ENST00000442201.6:c.668T>G ENSP00000405708.2:p.Leu223Arg
ENST00000476379.5:c.668T>G ENSP00000417960.1:p.Leu223Arg
NM_181426.1:c.668T>G NP_852091.1:p.Leu223Arg
NM_181426.2:c.668T>G MANE Select NP_852091.1:p.Leu223Arg
Search 100 bp 5'
Search 100 bp 3'