Canonical Allele Identifier: CA88636346

Gene: CCDC39

Linked Data

• dbSNP Id: rs1020793443
• gnomAD v2: 3-180377809-T-C
• gnomAD v3: 3-180660021-T-C
• gnomAD v4: 3-180660021-T-C
• MyVariant Identifiers: chr3:g.180377809T>C (hg19) ; chr3:g.180660021T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180660021T>C , CM000665.2:g.180660021T>C	GRCh38
NC_000003.11:g.180377809T>C , CM000665.1:g.180377809T>C	GRCh37
NC_000003.10:g.181860503T>C	NCBI36
NG_029581.1:g.24475A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.517-252A>G MANE Select	ENSP00000417960.2:n.517-252A>G
ENST00000650641.1:n.596-252A>G
ENST00000650889.1:n.689-252A>G
ENST00000651046.1:c.517-252A>G	ENSP00000499175.1:n.517-252A>G
ENST00000651818.1:n.659-252A>G
ENST00000652024.1:n.608-252A>G
ENST00000652408.1:n.654-252A>G
ENST00000442201.6:c.517-252A>G	ENSP00000405708.2:n.517-252A>G
ENST00000476379.5:c.517-252A>G	ENSP00000417960.1:n.517-252A>G
NM_181426.1:c.517-252A>G	NP_852091.1:n.517-252A>G
NM_181426.2:c.517-252A>G MANE Select	NP_852091.1:n.517-252A>G