Canonical Allele Identifier: CA355302577

Gene: CCDC39

Linked Data

• dbSNP Id: rs1224373006
• gnomAD v2: 3-180377484-G-A
• gnomAD v4: 3-180659696-G-A
• MyVariant Identifiers: chr3:g.180377484G>A (hg19) ; chr3:g.180659696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659696G>A , CM000665.2:g.180659696G>A	GRCh38
NC_000003.11:g.180377484G>A , CM000665.1:g.180377484G>A	GRCh37
NC_000003.10:g.181860178G>A	NCBI36
NG_029581.1:g.24800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.590C>T MANE Select	ENSP00000417960.2:p.Thr197Ile
ENST00000650641.1:n.669C>T
ENST00000650889.1:n.762C>T
ENST00000651046.1:c.590C>T	ENSP00000499175.1:p.Thr197Ile
ENST00000651818.1:n.732C>T
ENST00000652024.1:n.681C>T
ENST00000652408.1:n.727C>T
ENST00000442201.6:c.590C>T	ENSP00000405708.2:p.Thr197Ile
ENST00000476379.5:c.590C>T	ENSP00000417960.1:p.Thr197Ile
NM_181426.1:c.590C>T	NP_852091.1:p.Thr197Ile
NM_181426.2:c.590C>T MANE Select	NP_852091.1:p.Thr197Ile