Canonical Allele Identifier: CA8814541

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 260964
• ClinVar RCV Id: RCV000242772 ; RCV000345223 ; RCV001094547 ; RCV003422177
• dbSNP Id: rs146360951
• ExAC: 17:78069121 G / A
• gnomAD v2: 17-78069121-G-A
• gnomAD v3: 17-80095322-G-A
• gnomAD v4: 17-80095322-G-A
• MyVariant Identifiers: chr17:g.78069121G>A (hg19) ; chr17:g.80095322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80095322G>A , CM000679.2:g.80095322G>A	GRCh38
NC_000017.10:g.78069121G>A , CM000679.1:g.78069121G>A	GRCh37
NC_000017.9:g.75683716G>A	NCBI36
NG_029761.1:g.63691G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.2892G>A MANE Select	ENSP00000380679.4:p.Ala964=
ENST00000397545.8:c.2892G>A	ENSP00000380679.4:p.Ala964=
ENST00000572253.5:n.3143G>A
ENST00000574799.5:n.2429G>A
ENST00000575431.1:n.536G>A
NM_017950.3:c.2892G>A	NP_060420.2:p.Ala964=
XM_011524963.1:c.2802G>A	XP_011523265.1:p.Ala934=
XM_011524964.1:c.1713G>A	XP_011523266.1:p.Ala571=
XM_011524963.3:c.2802G>A	XP_011523265.1:p.Ala934=
XM_011524964.3:c.1713G>A	XP_011523266.1:p.Ala571=
XM_024450821.1:c.2802G>A	XP_024306589.1:p.Ala934=
XR_934495.2:n.3010G>A
NM_017950.4:c.2892G>A MANE Select	NP_060420.2:p.Ala964=