Canonical Allele Identifier: CA8814067

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 488402
• ClinVar RCV Id: RCV000578202 ; RCV002530363
• dbSNP Id: rs745993158
• ExAC: 17:78055858 G / A
• gnomAD v2: 17-78055858-G-A
• gnomAD v4: 17-80082059-G-A
• MyVariant Identifiers: chr17:g.78055858G>A (hg19) ; chr17:g.80082059G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80082059G>A , CM000679.2:g.80082059G>A	GRCh38
NC_000017.10:g.78055858G>A , CM000679.1:g.78055858G>A	GRCh37
NC_000017.9:g.75670453G>A	NCBI36
NG_029761.1:g.50428G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.1989+1G>A MANE Select	ENSP00000380679.4:n.1989+1G>A
ENST00000374877.7:c.1989+1G>A	ENSP00000364011.3:n.1989+1G>A
ENST00000397545.8:c.1989+1G>A	ENSP00000380679.4:n.1989+1G>A
ENST00000572253.5:n.616+1G>A
ENST00000574799.5:n.1526+1G>A
NM_001243342.1:c.1989+1G>A	NP_001230271.1:n.1989+1G>A
NM_017950.3:c.1989+1G>A	NP_060420.2:n.1989+1G>A
XM_011524963.1:c.1899+1G>A	XP_011523265.1:n.1899+1G>A
XM_011524964.1:c.810+1G>A	XP_011523266.1:n.810+1G>A
XM_011524965.1:c.1989+1G>A	XP_011523267.1:n.1989+1G>A
XR_934495.1:n.2020+1G>A
XM_011524963.3:c.1899+1G>A	XP_011523265.1:n.1899+1G>A
XM_011524964.3:c.810+1G>A	XP_011523266.1:n.810+1G>A
XM_011524965.3:c.1989+1G>A	XP_011523267.1:n.1989+1G>A
XM_017024807.1:c.1989+1G>A	XP_016880296.1:n.1989+1G>A
XM_024450821.1:c.1899+1G>A	XP_024306589.1:n.1899+1G>A
XR_001752550.2:n.2020+1G>A
XR_934495.2:n.2020+1G>A
NM_017950.4:c.1989+1G>A MANE Select	NP_060420.2:n.1989+1G>A
NM_001243342.2:c.1989+1G>A	NP_001230271.1:n.1989+1G>A