Canonical Allele Identifier: CA401350743

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 454885
• ClinVar RCV Id: RCV000528091
• dbSNP Id: rs370706991
• gnomAD v2: 17-78063562-G-A
• gnomAD v3: 17-80089763-G-A
• gnomAD v4: 17-80089763-G-A
• MyVariant Identifiers: chr17:g.78063562G>A (hg19) ; chr17:g.80089763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089763G>A , CM000679.2:g.80089763G>A	GRCh38
NC_000017.10:g.78063562G>A , CM000679.1:g.78063562G>A	GRCh37
NC_000017.9:g.75678157G>A	NCBI36
NG_029761.1:g.58132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.2712-1G>A MANE Select	ENSP00000380679.4:n.2712-1G>A
ENST00000374877.7:c.2712-1G>A	ENSP00000364011.3:n.2712-1G>A
ENST00000397545.8:c.2712-1G>A	ENSP00000380679.4:n.2712-1G>A
ENST00000572253.5:n.2963-1G>A
ENST00000573903.1:n.373G>A
ENST00000574799.5:n.2249-1G>A
ENST00000575431.1:n.356-1G>A
NM_001243342.1:c.2712-1G>A	NP_001230271.1:n.2712-1G>A
NM_017950.3:c.2712-1G>A	NP_060420.2:n.2712-1G>A
XM_011524963.1:c.2622-1G>A	XP_011523265.1:n.2622-1G>A
XM_011524964.1:c.1533-1G>A	XP_011523266.1:n.1533-1G>A
XR_934495.1:n.2830-1G>A
XM_011524963.3:c.2622-1G>A	XP_011523265.1:n.2622-1G>A
XM_011524964.3:c.1533-1G>A	XP_011523266.1:n.1533-1G>A
XM_024450821.1:c.2622-1G>A	XP_024306589.1:n.2622-1G>A
XR_934495.2:n.2830-1G>A
NM_017950.4:c.2712-1G>A MANE Select	NP_060420.2:n.2712-1G>A
NM_001243342.2:c.2712-1G>A	NP_001230271.1:n.2712-1G>A