Canonical Allele Identifier: CA8814610

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 260969
• ClinVar RCV Id: RCV000248815 ; RCV000465786 ; RCV001122310
• dbSNP Id: rs79588289
• ExAC: 17:78071049 C / T
• gnomAD v2: 17-78071049-C-T
• gnomAD v3: 17-80097250-C-T
• gnomAD v4: 17-80097250-C-T
• MyVariant Identifiers: chr17:g.78071049C>T (hg19) ; chr17:g.80097250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80097250C>T , CM000679.2:g.80097250C>T	GRCh38
NC_000017.10:g.78071049C>T , CM000679.1:g.78071049C>T	GRCh37
NC_000017.9:g.75685644C>T	NCBI36
NG_009822.1:g.695C>T , LRG_673:g.695C>T
NG_029761.1:g.65619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.3027C>T MANE Select	ENSP00000380679.4:p.Thr1009=
ENST00000397545.8:c.3027C>T	ENSP00000380679.4:p.Thr1009=
ENST00000572253.5:n.3278C>T
ENST00000574799.5:n.2564C>T
NM_017950.3:c.3027C>T	NP_060420.2:p.Thr1009=
XM_011524963.1:c.2937C>T	XP_011523265.1:p.Thr979=
XM_011524964.1:c.1848C>T	XP_011523266.1:p.Thr616=
XM_011524963.3:c.2937C>T	XP_011523265.1:p.Thr979=
XM_011524964.3:c.1848C>T	XP_011523266.1:p.Thr616=
XM_024450821.1:c.2937C>T	XP_024306589.1:p.Thr979=
XR_934495.2:n.3145C>T
NM_017950.4:c.3027C>T MANE Select	NP_060420.2:p.Thr1009=