Canonical Allele Identifier: CA8814566

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 288542
• ClinVar RCV Id: RCV000397708 ; RCV001082104 ; RCV001122308 ; RCV003977801
• dbSNP Id: rs200958035
• ExAC: 17:78069197 G / A
• gnomAD v2: 17-78069197-G-A
• gnomAD v3: 17-80095398-G-A
• gnomAD v4: 17-80095398-G-A
• COSMIC: COSM2803089
• MyVariant Identifiers: chr17:g.78069197G>A (hg19) ; chr17:g.80095398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80095398G>A , CM000679.2:g.80095398G>A	GRCh38
NC_000017.10:g.78069197G>A , CM000679.1:g.78069197G>A	GRCh37
NC_000017.9:g.75683792G>A	NCBI36
NG_029761.1:g.63767G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.2968G>A MANE Select	ENSP00000380679.4:p.Asp990Asn
ENST00000397545.8:c.2968G>A	ENSP00000380679.4:p.Asp990Asn
ENST00000572253.5:n.3219G>A
ENST00000574799.5:n.2505G>A
NM_017950.3:c.2968G>A	NP_060420.2:p.Asp990Asn
XM_011524963.1:c.2878G>A	XP_011523265.1:p.Asp960Asn
XM_011524964.1:c.1789G>A	XP_011523266.1:p.Asp597Asn
XM_011524963.3:c.2878G>A	XP_011523265.1:p.Asp960Asn
XM_011524964.3:c.1789G>A	XP_011523266.1:p.Asp597Asn
XM_024450821.1:c.2878G>A	XP_024306589.1:p.Asp960Asn
XR_934495.2:n.3086G>A
NM_017950.4:c.2968G>A MANE Select	NP_060420.2:p.Asp990Asn