Canonical Allele Identifier: CA8814614

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 260970
• ClinVar RCV Id: RCV000243717 ; RCV000355943 ; RCV001094515 ; RCV001573244
• dbSNP Id: rs117307093
• ExAC: 17:78071068 G / A
• gnomAD v2: 17-78071068-G-A
• gnomAD v3: 17-80097269-G-A
• gnomAD v4: 17-80097269-G-A
• MyVariant Identifiers: chr17:g.78071068G>A (hg19) ; chr17:g.80097269G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80097269G>A , CM000679.2:g.80097269G>A	GRCh38
NC_000017.10:g.78071068G>A , CM000679.1:g.78071068G>A	GRCh37
NC_000017.9:g.75685663G>A	NCBI36
NG_009822.1:g.714G>A , LRG_673:g.714G>A
NG_029761.1:g.65638G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.3046G>A MANE Select	ENSP00000380679.4:p.Val1016Ile
ENST00000397545.8:c.3046G>A	ENSP00000380679.4:p.Val1016Ile
ENST00000572253.5:n.3297G>A
ENST00000574799.5:n.2583G>A
NM_017950.3:c.3046G>A	NP_060420.2:p.Val1016Ile
XM_011524963.1:c.2956G>A	XP_011523265.1:p.Val986Ile
XM_011524964.1:c.1867G>A	XP_011523266.1:p.Val623Ile
XM_011524963.3:c.2956G>A	XP_011523265.1:p.Val986Ile
XM_011524964.3:c.1867G>A	XP_011523266.1:p.Val623Ile
XM_024450821.1:c.2956G>A	XP_024306589.1:p.Val986Ile
XR_934495.2:n.3164G>A
NM_017950.4:c.3046G>A MANE Select	NP_060420.2:p.Val1016Ile