Canonical Allele Identifier: CA8814184

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 325742
• ClinVar RCV Id: RCV000372636 ; RCV001094514 ; RCV003969926
• dbSNP Id: rs139435501
• ExAC: 17:78059953 C / G
• gnomAD v2: 17-78059953-C-G
• gnomAD v3: 17-80086154-C-G
• gnomAD v4: 17-80086154-C-G
• MyVariant Identifiers: chr17:g.78059953C>G (hg19) ; chr17:g.80086154C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80086154C>G , CM000679.2:g.80086154C>G	GRCh38
NC_000017.10:g.78059953C>G , CM000679.1:g.78059953C>G	GRCh37
NC_000017.9:g.75674548C>G	NCBI36
NG_029761.1:g.54523C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.2387C>G MANE Select	ENSP00000380679.4:p.Ala796Gly
ENST00000374877.7:c.2387C>G	ENSP00000364011.3:p.Ala796Gly
ENST00000397545.8:c.2387C>G	ENSP00000380679.4:p.Ala796Gly
ENST00000572253.5:n.1014C>G
ENST00000574799.5:n.1924C>G
NM_001243342.1:c.2387C>G	NP_001230271.1:p.Ala796Gly
NM_017950.3:c.2387C>G	NP_060420.2:p.Ala796Gly
XM_011524963.1:c.2297C>G	XP_011523265.1:p.Ala766Gly
XM_011524964.1:c.1208C>G	XP_011523266.1:p.Ala403Gly
XR_934495.1:n.2418C>G
XM_011524963.3:c.2297C>G	XP_011523265.1:p.Ala766Gly
XM_011524964.3:c.1208C>G	XP_011523266.1:p.Ala403Gly
XM_024450821.1:c.2297C>G	XP_024306589.1:p.Ala766Gly
XR_001752550.2:n.2418C>G
XR_934495.2:n.2418C>G
NM_017950.4:c.2387C>G MANE Select	NP_060420.2:p.Ala796Gly
NM_001243342.2:c.2387C>G	NP_001230271.1:p.Ala796Gly