Canonical Allele Identifier: CA8813605

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 260980
• ClinVar RCV Id: RCV000248873 ; RCV000514712 ; RCV002058281
• dbSNP Id: rs189118723
• ExAC: 17:78023687 G / A
• gnomAD v2: 17-78023687-G-A
• gnomAD v3: 17-80049888-G-A
• gnomAD v4: 17-80049888-G-A
• MyVariant Identifiers: chr17:g.78023687G>A (hg19) ; chr17:g.80049888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80049888G>A , CM000679.2:g.80049888G>A	GRCh38
NC_000017.10:g.78023687G>A , CM000679.1:g.78023687G>A	GRCh37
NC_000017.9:g.75638282G>A	NCBI36
NG_029761.1:g.18257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.856-18G>A MANE Select	ENSP00000380679.4:n.856-18G>A
ENST00000269318.9:c.856-18G>A	ENSP00000269318.5:n.856-18G>A
ENST00000374876.4:c.856-18G>A	ENSP00000364010.4:n.856-18G>A
ENST00000374877.7:c.856-18G>A	ENSP00000364011.3:n.856-18G>A
ENST00000397545.8:c.856-18G>A	ENSP00000380679.4:n.856-18G>A
ENST00000573474.5:c.310-18G>A
ENST00000574799.5:n.393-18G>A
NM_001243342.1:c.856-18G>A	NP_001230271.1:n.856-18G>A
NM_017950.3:c.856-18G>A	NP_060420.2:n.856-18G>A
XM_005257492.3:c.856-18G>A	XP_005257549.1:n.856-18G>A
XM_011524963.1:c.766-18G>A	XP_011523265.1:n.766-18G>A
XM_011524965.1:c.856-18G>A	XP_011523267.1:n.856-18G>A
XR_934495.1:n.887-18G>A
NM_001330508.1:c.856-18G>A	NP_001317437.1:n.856-18G>A
XM_011524963.3:c.766-18G>A	XP_011523265.1:n.766-18G>A
XM_011524965.3:c.856-18G>A	XP_011523267.1:n.856-18G>A
XM_017024807.1:c.856-18G>A	XP_016880296.1:n.856-18G>A
XM_024450821.1:c.766-18G>A	XP_024306589.1:n.766-18G>A
XR_001752550.2:n.887-18G>A
XR_934495.2:n.887-18G>A
NM_017950.4:c.856-18G>A MANE Select	NP_060420.2:n.856-18G>A
NM_001330508.2:c.856-18G>A	NP_001317437.1:n.856-18G>A
NM_001243342.2:c.856-18G>A	NP_001230271.1:n.856-18G>A