Canonical Allele Identifier: CA401324461

Gene: CCDC40

Linked Data

• dbSNP Id: rs2037822605
• gnomAD v4: 17-80058889-C-T
• MyVariant Identifiers: chr17:g.78032688C>T (hg19) ; chr17:g.80058889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80058889C>T , CM000679.2:g.80058889C>T	GRCh38
NC_000017.10:g.78032688C>T , CM000679.1:g.78032688C>T	GRCh37
NC_000017.9:g.75647283C>T	NCBI36
NG_029761.1:g.27258C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.1349C>T MANE Select	ENSP00000380679.4:p.Ala450Val
ENST00000269318.9:c.1349C>T	ENSP00000269318.5:p.Ala450Val
ENST00000374876.4:c.1317+238C>T	ENSP00000364010.4:n.1317+238C>T
ENST00000374877.7:c.1349C>T	ENSP00000364011.3:p.Ala450Val
ENST00000397545.8:c.1349C>T	ENSP00000380679.4:p.Ala450Val
ENST00000574799.5:n.886C>T
NM_001243342.1:c.1349C>T	NP_001230271.1:p.Ala450Val
NM_017950.3:c.1349C>T	NP_060420.2:p.Ala450Val
XM_005257492.3:c.1349C>T	XP_005257549.1:p.Ala450Val
XM_011524963.1:c.1259C>T	XP_011523265.1:p.Ala420Val
XM_011524964.1:c.170C>T	XP_011523266.1:p.Ala57Val
XM_011524965.1:c.1349C>T	XP_011523267.1:p.Ala450Val
XR_934495.1:n.1380C>T
NM_001330508.1:c.1349C>T	NP_001317437.1:p.Ala450Val
XM_011524963.3:c.1259C>T	XP_011523265.1:p.Ala420Val
XM_011524964.3:c.170C>T	XP_011523266.1:p.Ala57Val
XM_011524965.3:c.1349C>T	XP_011523267.1:p.Ala450Val
XM_017024807.1:c.1349C>T	XP_016880296.1:p.Ala450Val
XM_024450821.1:c.1259C>T	XP_024306589.1:p.Ala420Val
XR_001752550.2:n.1380C>T
XR_934495.2:n.1380C>T
NM_017950.4:c.1349C>T MANE Select	NP_060420.2:p.Ala450Val
NM_001330508.2:c.1349C>T	NP_001317437.1:p.Ala450Val
NM_001243342.2:c.1349C>T	NP_001230271.1:p.Ala450Val