Canonical Allele Identifier: CA335826

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 215523
• ClinVar RCV Id: RCV000195666 ; RCV000610187 ; RCV001125861 ; RCV001657985 ; RCV003907743
• dbSNP Id: rs191736683
• ExAC: 17:78055455 C / G
• gnomAD v2: 17-78055455-C-G
• gnomAD v3: 17-80081656-C-G
• gnomAD v4: 17-80081656-C-G
• MyVariant Identifiers: chr17:g.78055455C>G (hg19) ; chr17:g.80081656C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80081656C>G , CM000679.2:g.80081656C>G	GRCh38
NC_000017.10:g.78055455C>G , CM000679.1:g.78055455C>G	GRCh37
NC_000017.9:g.75670050C>G	NCBI36
NG_029761.1:g.50025C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.1673C>G MANE Select	ENSP00000380679.4:p.Thr558Arg
ENST00000374877.7:c.1673C>G	ENSP00000364011.3:p.Thr558Arg
ENST00000397545.8:c.1673C>G	ENSP00000380679.4:p.Thr558Arg
ENST00000572253.5:n.214C>G
ENST00000574799.5:n.1210C>G
NM_001243342.1:c.1673C>G	NP_001230271.1:p.Thr558Arg
NM_017950.3:c.1673C>G	NP_060420.2:p.Thr558Arg
XM_011524963.1:c.1583C>G	XP_011523265.1:p.Thr528Arg
XM_011524964.1:c.494C>G	XP_011523266.1:p.Thr165Arg
XM_011524965.1:c.1673C>G	XP_011523267.1:p.Thr558Arg
XR_934495.1:n.1704C>G
XM_011524963.3:c.1583C>G	XP_011523265.1:p.Thr528Arg
XM_011524964.3:c.494C>G	XP_011523266.1:p.Thr165Arg
XM_011524965.3:c.1673C>G	XP_011523267.1:p.Thr558Arg
XM_017024807.1:c.1673C>G	XP_016880296.1:p.Thr558Arg
XM_024450821.1:c.1583C>G	XP_024306589.1:p.Thr528Arg
XR_001752550.2:n.1704C>G
XR_934495.2:n.1704C>G
NM_017950.4:c.1673C>G MANE Select	NP_060420.2:p.Thr558Arg
NM_001243342.2:c.1673C>G	NP_001230271.1:p.Thr558Arg