Canonical Allele Identifier: CA184732

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 179591
• ClinVar RCV Id: RCV000156385 ; RCV000340912 ; RCV001094542 ; RCV001354328
• dbSNP Id: rs727504972
• ExAC: 17:78023856 G / A
• gnomAD v2: 17-78023856-G-A
• gnomAD v3: 17-80050057-G-A
• gnomAD v4: 17-80050057-G-A
• MyVariant Identifiers: chr17:g.78023856G>A (hg19) ; chr17:g.80050057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80050057G>A , CM000679.2:g.80050057G>A	GRCh38
NC_000017.10:g.78023856G>A , CM000679.1:g.78023856G>A	GRCh37
NC_000017.9:g.75638451G>A	NCBI36
NG_029761.1:g.18426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.940-7G>A MANE Select	ENSP00000380679.4:n.940-7G>A
ENST00000269318.9:c.940-7G>A	ENSP00000269318.5:n.940-7G>A
ENST00000374876.4:c.940-7G>A	ENSP00000364010.4:n.940-7G>A
ENST00000374877.7:c.940-7G>A	ENSP00000364011.3:n.940-7G>A
ENST00000397545.8:c.940-7G>A	ENSP00000380679.4:n.940-7G>A
ENST00000573474.5:c.394-7G>A
ENST00000574799.5:n.477-7G>A
NM_001243342.1:c.940-7G>A	NP_001230271.1:n.940-7G>A
NM_017950.3:c.940-7G>A	NP_060420.2:n.940-7G>A
XM_005257492.3:c.940-7G>A	XP_005257549.1:n.940-7G>A
XM_011524963.1:c.850-7G>A	XP_011523265.1:n.850-7G>A
XM_011524965.1:c.940-7G>A	XP_011523267.1:n.940-7G>A
XR_934495.1:n.971-7G>A
NM_001330508.1:c.940-7G>A	NP_001317437.1:n.940-7G>A
XM_011524963.3:c.850-7G>A	XP_011523265.1:n.850-7G>A
XM_011524965.3:c.940-7G>A	XP_011523267.1:n.940-7G>A
XM_017024807.1:c.940-7G>A	XP_016880296.1:n.940-7G>A
XM_024450821.1:c.850-7G>A	XP_024306589.1:n.850-7G>A
XR_001752550.2:n.971-7G>A
XR_934495.2:n.971-7G>A
NM_017950.4:c.940-7G>A MANE Select	NP_060420.2:n.940-7G>A
NM_001330508.2:c.940-7G>A	NP_001317437.1:n.940-7G>A
NM_001243342.2:c.940-7G>A	NP_001230271.1:n.940-7G>A