Canonical Allele Identifier: CA986716318

Gene: CCDC40

Linked Data

• dbSNP Id: rs1598500469
• gnomAD v3: 17-80058789-G-T
• gnomAD v4: 17-80058789-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80058789G>T , CM000679.2:g.80058789G>T	GRCh38
NC_000017.10:g.78032588G>T , CM000679.1:g.78032588G>T	GRCh37
NC_000017.9:g.75647183G>T	NCBI36
NG_029761.1:g.27158G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.1318-69G>T MANE Select	ENSP00000380679.4:n.1318-69G>T
ENST00000269318.9:c.1318-69G>T	ENSP00000269318.5:n.1318-69G>T
ENST00000374876.4:c.1317+138G>T	ENSP00000364010.4:n.1317+138G>T
ENST00000374877.7:c.1318-69G>T	ENSP00000364011.3:n.1318-69G>T
ENST00000397545.8:c.1318-69G>T	ENSP00000380679.4:n.1318-69G>T
ENST00000574799.5:n.855-69G>T
NM_001243342.1:c.1318-69G>T	NP_001230271.1:n.1318-69G>T
NM_017950.3:c.1318-69G>T	NP_060420.2:n.1318-69G>T
XM_005257492.3:c.1318-69G>T	XP_005257549.1:n.1318-69G>T
XM_011524963.1:c.1228-69G>T	XP_011523265.1:n.1228-69G>T
XM_011524964.1:c.139-69G>T	XP_011523266.1:n.139-69G>T
XM_011524965.1:c.1318-69G>T	XP_011523267.1:n.1318-69G>T
XR_934495.1:n.1349-69G>T
NM_001330508.1:c.1318-69G>T	NP_001317437.1:n.1318-69G>T
XM_011524963.3:c.1228-69G>T	XP_011523265.1:n.1228-69G>T
XM_011524964.3:c.139-69G>T	XP_011523266.1:n.139-69G>T
XM_011524965.3:c.1318-69G>T	XP_011523267.1:n.1318-69G>T
XM_017024807.1:c.1318-69G>T	XP_016880296.1:n.1318-69G>T
XM_024450821.1:c.1228-69G>T	XP_024306589.1:n.1228-69G>T
XR_001752550.2:n.1349-69G>T
XR_934495.2:n.1349-69G>T
NM_017950.4:c.1318-69G>T MANE Select	NP_060420.2:n.1318-69G>T
NM_001330508.2:c.1318-69G>T	NP_001317437.1:n.1318-69G>T
NM_001243342.2:c.1318-69G>T	NP_001230271.1:n.1318-69G>T