Canonical Allele Identifier: CA10586855
Gene: CCDC39 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180654839C>T , CM000665.2:g.180654839C>T GRCh38
NC_000003.11:g.180372627C>T , CM000665.1:g.180372627C>T GRCh37
NC_000003.10:g.181855321C>T NCBI36
NG_029581.1:g.29657G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.853G>A MANE Select ENSP00000417960.2:p.Val285Met
ENST00000650641.1:n.818-2573G>A
ENST00000650889.1:n.1025G>A
ENST00000651046.1:c.739-2573G>A ENSP00000499175.1:n.739-2573G>A
ENST00000651818.1:n.881-2573G>A
ENST00000652024.1:n.830-2573G>A
ENST00000652408.1:n.990G>A
ENST00000442201.6:c.853G>A ENSP00000405708.2:p.Val285Met
ENST00000476379.5:c.853G>A ENSP00000417960.1:p.Val285Met
NM_181426.1:c.853G>A NP_852091.1:p.Val285Met
NM_181426.2:c.853G>A MANE Select NP_852091.1:p.Val285Met