Canonical Allele Identifier: CA233637
Gene: CCDC39 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.180651495G>A
GRCh38 chr3:g.180651495_180651496delinsAT
GRCh37 chr3:g.180369283G>A
GRCh37 chr3:g.180369283_180369284delinsAT
Revel Score:
ENST00000273654 0.247
ENST00000442201 0.247
gnomAD v2:
3:180369283 G / A
gnomAD v3:
3:180651495 G / A
gnomAD v4:
chr3-180651495-G-A
Joint Max Group AF 0.00786559 (MID)
Genomes Max Group AF 0.00445179 (NFE)
Exomes Max Group AF 0.0082723 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180651495G>A , CM000665.2:g.180651495G>A GRCh38
NC_000003.11:g.180369283G>A , CM000665.1:g.180369283G>A GRCh37
NC_000003.10:g.181851977G>A NCBI36
NG_029581.1:g.33001C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.1073C>T MANE Select ENSP00000417960.2:p.Thr358Ile
ENST00000650641.1:n.960C>T
ENST00000650889.1:n.1464C>T
ENST00000651046.1:c.881C>T ENSP00000499175.1:p.Thr294Ile
ENST00000651818.1:n.1023C>T
ENST00000651922.1:n.398C>T
ENST00000652024.1:n.972C>T
ENST00000652408.1:n.1210C>T
ENST00000442201.6:c.1073C>T ENSP00000405708.2:p.Thr358Ile
ENST00000476379.5:c.1073C>T ENSP00000417960.1:p.Thr358Ile
NM_181426.1:c.1073C>T NP_852091.1:p.Thr358Ile
NM_181426.2:c.1073C>T MANE Select NP_852091.1:p.Thr358Ile
Search 100 bp 5'
Search 100 bp 3'