Canonical Allele Identifier: CA8814346

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 414637
• ClinVar RCV Id: RCV000463546 ; RCV001421091
• dbSNP Id: rs564504598
• ExAC: 17:78063649 T / G
• gnomAD v2: 17-78063649-T-G
• gnomAD v3: 17-80089850-T-G
• gnomAD v4: 17-80089850-T-G
• MyVariant Identifiers: chr17:g.78063649T>G (hg19) ; chr17:g.80089850T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089850T>G , CM000679.2:g.80089850T>G	GRCh38
NC_000017.10:g.78063649T>G , CM000679.1:g.78063649T>G	GRCh37
NC_000017.9:g.75678244T>G	NCBI36
NG_029761.1:g.58219T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.2798T>G MANE Select	ENSP00000380679.4:p.Ile933Ser
ENST00000374877.7:c.2798T>G	ENSP00000364011.3:p.Ile933Ser
ENST00000397545.8:c.2798T>G	ENSP00000380679.4:p.Ile933Ser
ENST00000572253.5:n.3049T>G
ENST00000573903.1:n.460T>G
ENST00000574799.5:n.2335T>G
ENST00000575431.1:n.442T>G
NM_001243342.1:c.2798T>G	NP_001230271.1:p.Ile933Ser
NM_017950.3:c.2798T>G	NP_060420.2:p.Ile933Ser
XM_011524963.1:c.2708T>G	XP_011523265.1:p.Ile903Ser
XM_011524964.1:c.1619T>G	XP_011523266.1:p.Ile540Ser
XM_011524963.3:c.2708T>G	XP_011523265.1:p.Ile903Ser
XM_011524964.3:c.1619T>G	XP_011523266.1:p.Ile540Ser
XM_024450821.1:c.2708T>G	XP_024306589.1:p.Ile903Ser
XR_934495.2:n.2916T>G
NM_017950.4:c.2798T>G MANE Select	NP_060420.2:p.Ile933Ser
NM_001243342.2:c.2798T>G	NP_001230271.1:p.Ile933Ser