Canonical Allele Identifier: CA8813802

Gene: CCDC40

Linked Data

• dbSNP Id: rs761146944
• ExAC: 17:78032709 T / G
• gnomAD v2: 17-78032709-T-G
• gnomAD v4: 17-80058910-T-G
• MyVariant Identifiers: chr17:g.78032709T>G (hg19) ; chr17:g.80058910T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80058910T>G , CM000679.2:g.80058910T>G	GRCh38
NC_000017.10:g.78032709T>G , CM000679.1:g.78032709T>G	GRCh37
NC_000017.9:g.75647304T>G	NCBI36
NG_029761.1:g.27279T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.1370T>G MANE Select	ENSP00000380679.4:p.Ile457Ser
ENST00000269318.9:c.1370T>G	ENSP00000269318.5:p.Ile457Ser
ENST00000374876.4:c.1317+259T>G	ENSP00000364010.4:n.1317+259T>G
ENST00000374877.7:c.1370T>G	ENSP00000364011.3:p.Ile457Ser
ENST00000397545.8:c.1370T>G	ENSP00000380679.4:p.Ile457Ser
ENST00000574799.5:n.907T>G
NM_001243342.1:c.1370T>G	NP_001230271.1:p.Ile457Ser
NM_017950.3:c.1370T>G	NP_060420.2:p.Ile457Ser
XM_005257492.3:c.1370T>G	XP_005257549.1:p.Ile457Ser
XM_011524963.1:c.1280T>G	XP_011523265.1:p.Ile427Ser
XM_011524964.1:c.191T>G	XP_011523266.1:p.Ile64Ser
XM_011524965.1:c.1370T>G	XP_011523267.1:p.Ile457Ser
XR_934495.1:n.1401T>G
NM_001330508.1:c.1370T>G	NP_001317437.1:p.Ile457Ser
XM_011524963.3:c.1280T>G	XP_011523265.1:p.Ile427Ser
XM_011524964.3:c.191T>G	XP_011523266.1:p.Ile64Ser
XM_011524965.3:c.1370T>G	XP_011523267.1:p.Ile457Ser
XM_017024807.1:c.1370T>G	XP_016880296.1:p.Ile457Ser
XM_024450821.1:c.1280T>G	XP_024306589.1:p.Ile427Ser
XR_001752550.2:n.1401T>G
XR_934495.2:n.1401T>G
NM_017950.4:c.1370T>G MANE Select	NP_060420.2:p.Ile457Ser
NM_001330508.2:c.1370T>G	NP_001317437.1:p.Ile457Ser
NM_001243342.2:c.1370T>G	NP_001230271.1:p.Ile457Ser