Canonical Allele Identifier: CA355302911

Gene: CCDC39

Linked Data

• gnomAD v4: 3-180659766-G-T
• MyVariant Identifiers: chr3:g.180377554G>T (hg19) ; chr3:g.180659766G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659766G>T , CM000665.2:g.180659766G>T	GRCh38
NC_000003.11:g.180377554G>T , CM000665.1:g.180377554G>T	GRCh37
NC_000003.10:g.181860248G>T	NCBI36
NG_029581.1:g.24730C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.520C>A MANE Select	ENSP00000417960.2:p.Leu174Met
ENST00000650641.1:n.599C>A
ENST00000650889.1:n.692C>A
ENST00000651046.1:c.520C>A	ENSP00000499175.1:p.Leu174Met
ENST00000651818.1:n.662C>A
ENST00000652024.1:n.611C>A
ENST00000652408.1:n.657C>A
ENST00000442201.6:c.520C>A	ENSP00000405708.2:p.Leu174Met
ENST00000476379.5:c.520C>A	ENSP00000417960.1:p.Leu174Met
NM_181426.1:c.520C>A	NP_852091.1:p.Leu174Met
NM_181426.2:c.520C>A MANE Select	NP_852091.1:p.Leu174Met