Canonical Allele Identifier: CA14427087

Gene: CCDC40

Linked Data

• dbSNP Id: rs2361701
• gnomAD v2: 17-78066617-G-A
• gnomAD v3: 17-80092818-G-A
• gnomAD v4: 17-80092818-G-A
• MyVariant Identifiers: chr17:g.78066617G>A (hg19) ; chr17:g.80092818G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80092818G>A , CM000679.2:g.80092818G>A	GRCh38
NC_000017.10:g.78066617G>A , CM000679.1:g.78066617G>A	GRCh37
NC_000017.9:g.75681212G>A	NCBI36
NG_029761.1:g.61187G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2833-2445G>A MANE Select	ENSP00000380679.4:n.2833-2445G>A
ENST00000397545.8:c.2833-2445G>A	ENSP00000380679.4:n.2833-2445G>A
ENST00000572253.5:n.3084-2445G>A
ENST00000574799.5:n.2370-2445G>A
ENST00000575431.1:n.477-2445G>A
NM_017950.3:c.2833-2445G>A	NP_060420.2:n.2833-2445G>A
XM_011524963.1:c.2743-2445G>A	XP_011523265.1:n.2743-2445G>A
XM_011524964.1:c.1654-2445G>A	XP_011523266.1:n.1654-2445G>A
XM_011524963.3:c.2743-2445G>A	XP_011523265.1:n.2743-2445G>A
XM_011524964.3:c.1654-2445G>A	XP_011523266.1:n.1654-2445G>A
XM_024450821.1:c.2743-2445G>A	XP_024306589.1:n.2743-2445G>A
XR_934495.2:n.2951-2445G>A
NM_017950.4:c.2833-2445G>A MANE Select	NP_060420.2:n.2833-2445G>A