Canonical Allele Identifier: CA8813582

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 260979
• ClinVar RCV Id: RCV000244307 ; RCV000399959 ; RCV001094519 ; RCV001283738 ; RCV001544955
• dbSNP Id: rs201042940
• ExAC: 17:78022555 G / C
• gnomAD v2: 17-78022555-G-C
• gnomAD v3: 17-80048756-G-C
• gnomAD v4: 17-80048756-G-C
• COSMIC: COSM1195324 ; COSM1195325
• MyVariant Identifiers: chr17:g.78022555G>C (hg19) ; chr17:g.80048756G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80048756G>C , CM000679.2:g.80048756G>C	GRCh38
NC_000017.10:g.78022555G>C , CM000679.1:g.78022555G>C	GRCh37
NC_000017.9:g.75637150G>C	NCBI36
NG_029761.1:g.17125G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.850G>C MANE Select	ENSP00000380679.4:p.Asp284His
ENST00000269318.9:c.850G>C	ENSP00000269318.5:p.Asp284His
ENST00000374876.4:c.850G>C	ENSP00000364010.4:p.Asp284His
ENST00000374877.7:c.850G>C	ENSP00000364011.3:p.Asp284His
ENST00000397545.8:c.850G>C	ENSP00000380679.4:p.Asp284His
ENST00000573474.5:c.304G>C
ENST00000574799.5:n.387G>C
NM_001243342.1:c.850G>C	NP_001230271.1:p.Asp284His
NM_017950.3:c.850G>C	NP_060420.2:p.Asp284His
XM_005257492.3:c.850G>C	XP_005257549.1:p.Asp284His
XM_011524963.1:c.760G>C	XP_011523265.1:p.Asp254His
XM_011524965.1:c.850G>C	XP_011523267.1:p.Asp284His
XR_934495.1:n.881G>C
NM_001330508.1:c.850G>C	NP_001317437.1:p.Asp284His
XM_011524963.3:c.760G>C	XP_011523265.1:p.Asp254His
XM_011524965.3:c.850G>C	XP_011523267.1:p.Asp284His
XM_017024807.1:c.850G>C	XP_016880296.1:p.Asp284His
XM_024450821.1:c.760G>C	XP_024306589.1:p.Asp254His
XR_001752550.2:n.881G>C
XR_934495.2:n.881G>C
NM_017950.4:c.850G>C MANE Select	NP_060420.2:p.Asp284His
NM_001330508.2:c.850G>C	NP_001317437.1:p.Asp284His
NM_001243342.2:c.850G>C	NP_001230271.1:p.Asp284His