Canonical Allele Identifier: CA8814329

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 1512968
• ClinVar RCV Id: RCV002045788
• dbSNP Id: rs756183009
• ExAC: 17:78063585 A / G
• gnomAD v2: 17-78063585-A-G
• gnomAD v3: 17-80089786-A-G
• gnomAD v4: 17-80089786-A-G
• MyVariant Identifiers: chr17:g.78063585A>G (hg19) ; chr17:g.80089786A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089786A>G , CM000679.2:g.80089786A>G	GRCh38
NC_000017.10:g.78063585A>G , CM000679.1:g.78063585A>G	GRCh37
NC_000017.9:g.75678180A>G	NCBI36
NG_029761.1:g.58155A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2734A>G MANE Select	ENSP00000380679.4:p.Lys912Glu
ENST00000374877.7:c.2734A>G	ENSP00000364011.3:p.Lys912Glu
ENST00000397545.8:c.2734A>G	ENSP00000380679.4:p.Lys912Glu
ENST00000572253.5:n.2985A>G
ENST00000573903.1:n.396A>G
ENST00000574799.5:n.2271A>G
ENST00000575431.1:n.378A>G
NM_001243342.1:c.2734A>G	NP_001230271.1:p.Lys912Glu
NM_017950.3:c.2734A>G	NP_060420.2:p.Lys912Glu
XM_011524963.1:c.2644A>G	XP_011523265.1:p.Lys882Glu
XM_011524964.1:c.1555A>G	XP_011523266.1:p.Lys519Glu
XR_934495.1:n.2852A>G
XM_011524963.3:c.2644A>G	XP_011523265.1:p.Lys882Glu
XM_011524964.3:c.1555A>G	XP_011523266.1:p.Lys519Glu
XM_024450821.1:c.2644A>G	XP_024306589.1:p.Lys882Glu
XR_934495.2:n.2852A>G
NM_017950.4:c.2734A>G MANE Select	NP_060420.2:p.Lys912Glu
NM_001243342.2:c.2734A>G	NP_001230271.1:p.Lys912Glu