Canonical Allele Identifier: CA182834

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 178711
• ClinVar RCV Id: RCV000155469 ; RCV000301116 ; RCV000265227 ; RCV000613730 ; RCV001706030
• dbSNP Id: rs12952612
• ExAC: 17:78071052 T / C
• gnomAD v2: 17-78071052-T-C
• gnomAD v3: 17-80097253-T-C
• gnomAD v4: 17-80097253-T-C
• MyVariant Identifiers: chr17:g.78071052T>C (hg19) ; chr17:g.80097253T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80097253T>C , CM000679.2:g.80097253T>C	GRCh38
NC_000017.10:g.78071052T>C , CM000679.1:g.78071052T>C	GRCh37
NC_000017.9:g.75685647T>C	NCBI36
NG_009822.1:g.698T>C , LRG_673:g.698T>C
NG_029761.1:g.65622T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.3030T>C MANE Select	ENSP00000380679.4:p.Asp1010=
ENST00000397545.8:c.3030T>C	ENSP00000380679.4:p.Asp1010=
ENST00000572253.5:n.3281T>C
ENST00000574799.5:n.2567T>C
NM_017950.3:c.3030T>C	NP_060420.2:p.Asp1010=
XM_011524963.1:c.2940T>C	XP_011523265.1:p.Asp980=
XM_011524964.1:c.1851T>C	XP_011523266.1:p.Asp617=
XM_011524963.3:c.2940T>C	XP_011523265.1:p.Asp980=
XM_011524964.3:c.1851T>C	XP_011523266.1:p.Asp617=
XM_024450821.1:c.2940T>C	XP_024306589.1:p.Asp980=
XR_934495.2:n.3148T>C
NM_017950.4:c.3030T>C MANE Select	NP_060420.2:p.Asp1010=