Canonical Allele Identifier: CA350150
Gene: CCDC39 HGNC NCBI
TTC14 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.180616933A>G
GRCh37 chr3:g.180334721A>G
gnomAD v2:
3:180334721 A / G
gnomAD v3:
3:180616933 A / G
gnomAD v4:
chr3-180616933-A-G
Joint Max Group AF 0.00420886 (NFE)
Genomes Max Group AF 0.00374741 (NFE)
Exomes Max Group AF 0.00421625 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180616933A>G , CM000665.2:g.180616933A>G GRCh38
NC_000003.11:g.180334721A>G , CM000665.1:g.180334721A>G GRCh37
NC_000003.10:g.181817415A>G NCBI36
NG_029581.1:g.67563T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.2299T>C (CCDC39) MANE Select ENSP00000417960.2:p.Leu767=
ENST00000651046.1:c.2107T>C (CCDC39) ENSP00000499175.1:p.Leu703=
ENST00000651922.1:n.1624T>C (CCDC39)
ENST00000652010.1:n.2375T>C (CCDC39)
ENST00000382584.8:c.1775-447A>G (TTC14) ENSP00000372027.4:n.1775-447A>G
ENST00000442201.6:c.2299T>C ENSP00000405708.2:p.Leu767=
ENST00000476379.5:c.*123T>C ENSP00000417960.1:n.*123T>C
NM_001288582.1:c.1775-447A>G (TTC14) NP_001275511.1:n.1775-447A>G
NM_181426.1:c.2299T>C (CCDC39) NP_852091.1:p.Leu767=
NM_181426.2:c.2299T>C (CCDC39) MANE Select NP_852091.1:p.Leu767=
NM_001288582.2:c.1775-447A>G (TTC14) NP_001275511.1:n.1775-447A>G
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