Canonical Allele Identifier: CA401324649

Gene: CCDC40

Linked Data

• dbSNP Id: rs2037825438
• gnomAD v3: 17-80058976-G-A
• gnomAD v4: 17-80058976-G-A
• MyVariant Identifiers: chr17:g.78032775G>A (hg19) ; chr17:g.80058976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80058976G>A , CM000679.2:g.80058976G>A	GRCh38
NC_000017.10:g.78032775G>A , CM000679.1:g.78032775G>A	GRCh37
NC_000017.9:g.75647370G>A	NCBI36
NG_029761.1:g.27345G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.1436G>A MANE Select	ENSP00000380679.4:p.Ser479Asn
ENST00000269318.9:c.1436G>A	ENSP00000269318.5:p.Ser479Asn
ENST00000374876.4:c.1317+325G>A	ENSP00000364010.4:n.1317+325G>A
ENST00000374877.7:c.1436G>A	ENSP00000364011.3:p.Ser479Asn
ENST00000397545.8:c.1436G>A	ENSP00000380679.4:p.Ser479Asn
ENST00000571028.1:c.52G>A
ENST00000574799.5:n.973G>A
NM_001243342.1:c.1436G>A	NP_001230271.1:p.Ser479Asn
NM_017950.3:c.1436G>A	NP_060420.2:p.Ser479Asn
XM_005257492.3:c.1436G>A	XP_005257549.1:p.Ser479Asn
XM_011524963.1:c.1346G>A	XP_011523265.1:p.Ser449Asn
XM_011524964.1:c.257G>A	XP_011523266.1:p.Ser86Asn
XM_011524965.1:c.1436G>A	XP_011523267.1:p.Ser479Asn
XR_934495.1:n.1467G>A
NM_001330508.1:c.1436G>A	NP_001317437.1:p.Ser479Asn
XM_011524963.3:c.1346G>A	XP_011523265.1:p.Ser449Asn
XM_011524964.3:c.257G>A	XP_011523266.1:p.Ser86Asn
XM_011524965.3:c.1436G>A	XP_011523267.1:p.Ser479Asn
XM_017024807.1:c.1436G>A	XP_016880296.1:p.Ser479Asn
XM_024450821.1:c.1346G>A	XP_024306589.1:p.Ser449Asn
XR_001752550.2:n.1467G>A
XR_934495.2:n.1467G>A
NM_017950.4:c.1436G>A MANE Select	NP_060420.2:p.Ser479Asn
NM_001330508.2:c.1436G>A	NP_001317437.1:p.Ser479Asn
NM_001243342.2:c.1436G>A	NP_001230271.1:p.Ser479Asn