Canonical Allele Identifier: CA8814666

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 1032012
• ClinVar RCV Id: RCV001333982 ; RCV002546665
• dbSNP Id: rs369522039
• ExAC: 17:78073329 C / G
• gnomAD v2: 17-78073329-C-G
• gnomAD v3: 17-80099530-C-G
• gnomAD v4: 17-80099530-C-G
• MyVariant Identifiers: chr17:g.78073329C>G (hg19) ; chr17:g.80099530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099530C>G , CM000679.2:g.80099530C>G	GRCh38
NC_000017.10:g.78073329C>G , CM000679.1:g.78073329C>G	GRCh37
NC_000017.9:g.75687924C>G	NCBI36
NG_009822.1:g.2975C>G , LRG_673:g.2975C>G
NG_029761.1:g.67899C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.3184C>G MANE Select	ENSP00000380679.4:p.Leu1062Val
ENST00000397545.8:c.3184C>G	ENSP00000380679.4:p.Leu1062Val
ENST00000574799.5:n.2721C>G
NM_017950.3:c.3184C>G	NP_060420.2:p.Leu1062Val
XM_011524963.1:c.3094C>G	XP_011523265.1:p.Leu1032Val
XM_011524964.1:c.2005C>G	XP_011523266.1:p.Leu669Val
XM_011524963.3:c.3094C>G	XP_011523265.1:p.Leu1032Val
XM_011524964.3:c.2005C>G	XP_011523266.1:p.Leu669Val
XM_024450821.1:c.3094C>G	XP_024306589.1:p.Leu1032Val
XR_934495.2:n.3302C>G
NM_017950.4:c.3184C>G MANE Select	NP_060420.2:p.Leu1062Val