Canonical Allele Identifier: CA8814640

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 525411
• ClinVar RCV Id: RCV000629467 ; RCV003411489 ; RCV002483769
• dbSNP Id: rs200902434
• ExAC: 17:78071198 G / A
• gnomAD v2: 17-78071198-G-A
• gnomAD v3: 17-80097399-G-A
• gnomAD v4: 17-80097399-G-A
• MyVariant Identifiers: chr17:g.78071198G>A (hg19) ; chr17:g.80097399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80097399G>A , CM000679.2:g.80097399G>A	GRCh38
NC_000017.10:g.78071198G>A , CM000679.1:g.78071198G>A	GRCh37
NC_000017.9:g.75685793G>A	NCBI36
NG_009822.1:g.844G>A , LRG_673:g.844G>A
NG_029761.1:g.65768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.3176G>A MANE Select	ENSP00000380679.4:p.Arg1059Gln
ENST00000397545.8:c.3176G>A	ENSP00000380679.4:p.Arg1059Gln
ENST00000572253.5:n.3427G>A
ENST00000574799.5:n.2713G>A
NM_017950.3:c.3176G>A	NP_060420.2:p.Arg1059Gln
XM_011524963.1:c.3086G>A	XP_011523265.1:p.Arg1029Gln
XM_011524964.1:c.1997G>A	XP_011523266.1:p.Arg666Gln
XM_011524963.3:c.3086G>A	XP_011523265.1:p.Arg1029Gln
XM_011524964.3:c.1997G>A	XP_011523266.1:p.Arg666Gln
XM_024450821.1:c.3086G>A	XP_024306589.1:p.Arg1029Gln
XR_934495.2:n.3294G>A
NM_017950.4:c.3176G>A MANE Select	NP_060420.2:p.Arg1059Gln