Canonical Allele Identifier: CA401345361

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 505068
• ClinVar RCV Id: RCV000611614
• dbSNP Id: rs1555889343
• MyVariant Identifiers: chr17:g.78011975A>G (hg19) ; chr17:g.80038176A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80038176A>G , CM000679.2:g.80038176A>G	GRCh38
NC_000017.10:g.78011975A>G , CM000679.1:g.78011975A>G	GRCh37
NC_000017.9:g.75626570A>G	NCBI36
NG_029761.1:g.6545A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.83A>G MANE Select	ENSP00000380679.4:p.Glu28Gly
ENST00000269318.9:c.83A>G	ENSP00000269318.5:p.Glu28Gly
ENST00000374876.4:c.83A>G	ENSP00000364010.4:p.Glu28Gly
ENST00000374877.7:c.83A>G	ENSP00000364011.3:p.Glu28Gly
ENST00000397545.8:c.83A>G	ENSP00000380679.4:p.Glu28Gly
ENST00000572083.5:n.82A>G
ENST00000572270.1:n.106+1419A>G
ENST00000574099.1:c.-8A>G	ENSP00000460002.1:n.-8A>G
ENST00000576033.5:c.-8A>G	ENSP00000459489.1:n.-8A>G
ENST00000576241.1:n.69A>G
NM_001243342.1:c.83A>G	NP_001230271.1:p.Glu28Gly
NM_017950.3:c.83A>G	NP_060420.2:p.Glu28Gly
XM_005257492.3:c.83A>G	XP_005257549.1:p.Glu28Gly
XM_011524963.1:c.-8A>G	XP_011523265.1:n.-8A>G
XM_011524965.1:c.83A>G	XP_011523267.1:p.Glu28Gly
XR_934495.1:n.114A>G
NM_001330508.1:c.83A>G	NP_001317437.1:p.Glu28Gly
XM_011524963.3:c.-8A>G	XP_011523265.1:n.-8A>G
XM_011524965.3:c.83A>G	XP_011523267.1:p.Glu28Gly
XM_017024807.1:c.83A>G	XP_016880296.1:p.Glu28Gly
XM_024450821.1:c.-8A>G	XP_024306589.1:n.-8A>G
XR_001752550.2:n.114A>G
XR_934495.2:n.114A>G
NM_017950.4:c.83A>G MANE Select	NP_060420.2:p.Glu28Gly
NM_001330508.2:c.83A>G	NP_001317437.1:p.Glu28Gly
NM_001243342.2:c.83A>G	NP_001230271.1:p.Glu28Gly